Canonical Allele Identifier: CA4432629

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 1343481
• ClinVar RCV Id: RCV001844499 ; RCV002545237
• dbSNP Id: rs765644650
• ExAC: 7:107323902 G / A
• gnomAD v2: 7-107323902-G-A
• gnomAD v4: 7-107683457-G-A
• MyVariant Identifiers: chr7:g.107323902G>A (hg19) ; chr7:g.107683457G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107683457G>A , CM000669.2:g.107683457G>A	GRCh38
NC_000007.13:g.107323902G>A , CM000669.1:g.107323902G>A	GRCh37
NC_000007.12:g.107111138G>A	NCBI36
NG_008489.1:g.27823G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.921G>A MANE Select	ENSP00000494017.1:p.Thr307=
ENST00000265715.7:c.921G>A	ENSP00000265715.3:p.Thr307=
NM_000441.1:c.921G>A	NP_000432.1:p.Thr307=
XM_005250425.1:c.921G>A	XP_005250482.1:p.Thr307=
XM_006716025.2:c.921G>A	XP_006716088.1:p.Thr307=
XM_005250425.2:c.921G>A	XP_005250482.1:p.Thr307=
XM_006716025.3:c.921G>A	XP_006716088.1:p.Thr307=
XM_017012318.1:c.921G>A	XP_016867807.1:p.Thr307=
NM_000441.2:c.921G>A MANE Select	NP_000432.1:p.Thr307=