Canonical Allele Identifier: CA132711

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 43545
• ClinVar RCV Id: RCV000036481 ; RCV000584878 ; RCV001164904 ; RCV001164905 ; RCV001375368
• dbSNP Id: rs111033310
• ExAC: 7:107350628 G / T
• gnomAD v2: 7-107350628-G-T
• gnomAD v3: 7-107710183-G-T
• gnomAD v4: 7-107710183-G-T
• MyVariant Identifiers: chr7:g.107350628G>T (hg19) ; chr7:g.107710183G>T (hg38)
• PubMed: PMID:16570074 ; PMID:18285825

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107710183G>T , CM000669.2:g.107710183G>T	GRCh38
NC_000007.13:g.107350628G>T , CM000669.1:g.107350628G>T	GRCh37
NC_000007.12:g.107137864G>T	NCBI36
NG_008489.1:g.54549G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.2219G>T MANE Select	ENSP00000494017.1:p.Gly740Val
ENST00000644846.1:c.875G>T
ENST00000265715.7:c.2219G>T	ENSP00000265715.3:p.Gly740Val
ENST00000492030.2:n.405G>T
NM_000441.1:c.2219G>T	NP_000432.1:p.Gly740Val
XM_005250425.1:c.2219G>T	XP_005250482.1:p.Gly740Val
XM_005250425.2:c.2219G>T	XP_005250482.1:p.Gly740Val
XM_017012318.1:c.2141G>T	XP_016867807.1:p.Gly714Val
NM_000441.2:c.2219G>T MANE Select	NP_000432.1:p.Gly740Val