Canonical Allele Identifier: CA386959005
Gene: HNF1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.121426663G>C (hg19) chr12:g.120988860G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120988860G>C , CM000674.2:g.120988860G>C GRCh38
NC_000012.11:g.121426663G>C , CM000674.1:g.121426663G>C GRCh37
NC_000012.10:g.119911046G>C NCBI36
NG_011731.2:g.15115G>C , LRG_522:g.15115G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.354G>C ENSP00000453965.2:p.Met118Ile
ENST00000257555.11:c.354G>C MANE Select ENSP00000257555.5:p.Met118Ile
ENST00000257555.10:c.354G>C ENSP00000257555.4:p.Met118Ile
ENST00000400024.6:c.354G>C ENSP00000476181.1:p.Met118Ile
ENST00000402929.5:n.489G>C
ENST00000535955.5:n.43-8631G>C
ENST00000538626.2:n.191-8631G>C
ENST00000538646.5:c.354G>C ENSP00000443964.1:p.Met118Ile
ENST00000540108.1:c.327-4660G>C ENSP00000445445.1:n.327-4660G>C
ENST00000541395.5:c.354G>C ENSP00000443112.1:p.Met118Ile
ENST00000541924.5:c.354G>C ENSP00000440361.1:p.Met118Ile
ENST00000543427.5:c.354G>C ENSP00000439721.2:p.Met118Ile
ENST00000544413.2:c.354G>C ENSP00000438804.1:p.Met118Ile
ENST00000544574.5:c.73-7757G>C ENSP00000438565.1:n.73-7757G>C
ENST00000560968.5:c.497G>C
ENST00000615446.4:c.-257-7402G>C ENSP00000483994.1:n.-257-7402G>C
ENST00000617366.4:c.354G>C ENSP00000481967.1:p.Met118Ile
NM_000545.5:c.354G>C , LRG_522t1:c.354G>C NP_000536.5:p.Met118Ile
NM_000545.6:c.354G>C NP_000536.5:p.Met118Ile
NM_001306179.1:c.354G>C NP_001293108.1:p.Met118Ile
XM_005253931.2:c.354G>C XP_005253988.1:p.Met118Ile
XM_024449168.1:c.354G>C XP_024304936.1:p.Met118Ile
NM_000545.8:c.354G>C MANE Select NP_000536.6:p.Met118Ile
NM_001306179.2:c.354G>C NP_001293108.2:p.Met118Ile
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