Canonical Allele Identifier: CA4433024
Gene: SLC26A4 HGNC NCBI

Linked Data

dbSNP Id: rs760740477
ExAC: 7:107344830 G / A
gnomAD v2: 7-107344830-G-A
gnomAD v4: 7-107704385-G-A
MyVariant Identifiers: chr7:g.107344830G>A (hg19) chr7:g.107704385G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107704385G>A , CM000669.2:g.107704385G>A GRCh38
NC_000007.13:g.107344830G>A , CM000669.1:g.107344830G>A GRCh37
NC_000007.12:g.107132066G>A NCBI36
NG_008489.1:g.48751G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.2089G>A MANE Select ENSP00000494017.1:p.Asp697Asn
ENST00000644846.1:c.745+2328G>A
ENST00000265715.7:c.2089G>A ENSP00000265715.3:p.Asp697Asn
ENST00000492030.2:n.376G>A
NM_000441.1:c.2089G>A NP_000432.1:p.Asp697Asn
XM_005250425.1:c.2089G>A XP_005250482.1:p.Asp697Asn
XM_005250425.2:c.2089G>A XP_005250482.1:p.Asp697Asn
XM_017012318.1:c.2011G>A XP_016867807.1:p.Asp671Asn
NM_000441.2:c.2089G>A MANE Select NP_000432.1:p.Asp697Asn
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