Canonical Allele Identifier: CA4432908

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 229254
• ClinVar RCV Id: RCV001828084 ; RCV002478773 ; RCV003230455 ; RCV000215204
• dbSNP Id: rs759360026
• ExAC: 7:107340591 G / A
• gnomAD v2: 7-107340591-G-A
• gnomAD v3: 7-107700146-G-A
• gnomAD v4: 7-107700146-G-A
• MyVariant Identifiers: chr7:g.107340591G>A (hg19) ; chr7:g.107700146G>A (hg38)
• PubMed: PMID:23185506

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107700146G>A , CM000669.2:g.107700146G>A	GRCh38
NC_000007.13:g.107340591G>A , CM000669.1:g.107340591G>A	GRCh37
NC_000007.12:g.107127827G>A	NCBI36
NG_008489.1:g.44512G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.1678G>A MANE Select	ENSP00000494017.1:p.Asp560Asn
ENST00000644846.1:c.389G>A
ENST00000265715.7:c.1678G>A	ENSP00000265715.3:p.Asp560Asn
ENST00000477350.5:n.525G>A
ENST00000480841.5:n.527G>A
ENST00000492030.2:n.61G>A
NM_000441.1:c.1678G>A	NP_000432.1:p.Asp560Asn
XM_005250425.1:c.1678G>A	XP_005250482.1:p.Asp560Asn
XM_005250425.2:c.1678G>A	XP_005250482.1:p.Asp560Asn
XM_017012318.1:c.1600G>A	XP_016867807.1:p.Asp534Asn
NM_000441.2:c.1678G>A MANE Select	NP_000432.1:p.Asp560Asn