Canonical Allele Identifier: CA4433055
Gene: SLC26A4 HGNC NCBI

Linked Data

dbSNP Id: rs148988363
ExAC: 7:107350546 A / G
gnomAD v2: 7-107350546-A-G
gnomAD v4: 7-107710101-A-G
MyVariant Identifiers: chr7:g.107350546A>G (hg19) chr7:g.107710101A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107710101A>G , CM000669.2:g.107710101A>G GRCh38
NC_000007.13:g.107350546A>G , CM000669.1:g.107350546A>G GRCh37
NC_000007.12:g.107137782A>G NCBI36
NG_008489.1:g.54467A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.2137A>G MANE Select ENSP00000494017.1:p.Ile713Val
ENST00000644846.1:c.793A>G
ENST00000265715.7:c.2137A>G ENSP00000265715.3:p.Ile713Val
ENST00000492030.2:n.377-54A>G
NM_000441.1:c.2137A>G NP_000432.1:p.Ile713Val
XM_005250425.1:c.2137A>G XP_005250482.1:p.Ile713Val
XM_005250425.2:c.2137A>G XP_005250482.1:p.Ile713Val
XM_017012318.1:c.2059A>G XP_016867807.1:p.Ile687Val
NM_000441.2:c.2137A>G MANE Select NP_000432.1:p.Ile713Val
Search 100 bp 5'
Search 100 bp 3'