Canonical Allele Identifier: CA356811949
Gene: GABRB1 HGNC NCBI

Linked Data

COSMIC: COSM3604139
MyVariant Identifiers: chr4:g.47408899C>T (hg19) chr4:g.47406882C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47406882C>T , CM000666.2:g.47406882C>T GRCh38
NC_000004.11:g.47408899C>T , CM000666.1:g.47408899C>T GRCh37
NC_000004.10:g.47103656C>T NCBI36
NG_051831.1:g.380605C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.1036C>T MANE Select ENSP00000295454.3:p.Gln346Ter
ENST00000295454.7:c.1036C>T ENSP00000295454.3:p.Gln346Ter
NM_000812.3:c.1036C>T NP_000803.2:p.Gln346Ter
XM_011513678.1:c.1015C>T XP_011511980.1:p.Gln339Ter
XM_017007985.1:c.385C>T XP_016863474.1:p.Gln129Ter
XM_024453976.1:c.937C>T XP_024309744.1:p.Gln313Ter
XM_024453977.1:c.937C>T XP_024309745.1:p.Gln313Ter
XM_024453978.1:c.937C>T XP_024309746.1:p.Gln313Ter
NM_000812.4:c.1036C>T MANE Select NP_000803.2:p.Gln346Ter
Search 100 bp 5'
Search 100 bp 3'