Canonical Allele Identifier: CA132723

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 43552
• ClinVar RCV Id: RCV000036488 ; RCV001425705
• dbSNP Id: rs397516429
• ExAC: 7:107303873 G / A
• gnomAD v2: 7-107303873-G-A
• gnomAD v3: 7-107663428-G-A
• gnomAD v4: 7-107663428-G-A
• COSMIC: COSM4587036
• MyVariant Identifiers: chr7:g.107303873G>A (hg19) ; chr7:g.107663428G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107663428G>A , CM000669.2:g.107663428G>A	GRCh38
NC_000007.13:g.107303873G>A , CM000669.1:g.107303873G>A	GRCh37
NC_000007.12:g.107091109G>A	NCBI36
NG_008489.1:g.7794G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.297G>A MANE Select	ENSP00000494017.1:p.Thr99=
ENST00000265715.7:c.297G>A	ENSP00000265715.3:p.Thr99=
ENST00000440056.1:c.297G>A	ENSP00000394760.1:p.Thr99=
NM_000441.1:c.297G>A	NP_000432.1:p.Thr99=
XM_005250425.1:c.297G>A	XP_005250482.1:p.Thr99=
XM_006716025.2:c.297G>A	XP_006716088.1:p.Thr99=
XM_005250425.2:c.297G>A	XP_005250482.1:p.Thr99=
XM_006716025.3:c.297G>A	XP_006716088.1:p.Thr99=
XM_017012318.1:c.297G>A	XP_016867807.1:p.Thr99=
NM_000441.2:c.297G>A MANE Select	NP_000432.1:p.Thr99=