Canonical Allele Identifier: CA164209004

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 1313782
• ClinVar RCV Id: RCV001769428
• dbSNP Id: rs139623905
• gnomAD v4: 7-107663312-G-T
• MyVariant Identifiers: chr7:g.107303757G>T (hg19) ; chr7:g.107663312G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107663312G>T , CM000669.2:g.107663312G>T	GRCh38
NC_000007.13:g.107303757G>T , CM000669.1:g.107303757G>T	GRCh37
NC_000007.12:g.107090993G>T	NCBI36
NG_008489.1:g.7678G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.181G>T MANE Select	ENSP00000494017.1:p.Ala61Ser
ENST00000265715.7:c.181G>T	ENSP00000265715.3:p.Ala61Ser
ENST00000440056.1:c.181G>T	ENSP00000394760.1:p.Ala61Ser
NM_000441.1:c.181G>T	NP_000432.1:p.Ala61Ser
XM_005250425.1:c.181G>T	XP_005250482.1:p.Ala61Ser
XM_006716025.2:c.181G>T	XP_006716088.1:p.Ala61Ser
XM_005250425.2:c.181G>T	XP_005250482.1:p.Ala61Ser
XM_006716025.3:c.181G>T	XP_006716088.1:p.Ala61Ser
XM_017012318.1:c.181G>T	XP_016867807.1:p.Ala61Ser
NM_000441.2:c.181G>T MANE Select	NP_000432.1:p.Ala61Ser