Canonical Allele Identifier: CA4432961

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 2916376
• ClinVar RCV Id: RCV003740396
• dbSNP Id: rs772041663
• ExAC: 7:107342260 T / C
• gnomAD v2: 7-107342260-T-C
• gnomAD v3: 7-107701815-T-C
• gnomAD v4: 7-107701815-T-C
• MyVariant Identifiers: chr7:g.107342260T>C (hg19) ; chr7:g.107701815T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107701815T>C , CM000669.2:g.107701815T>C	GRCh38
NC_000007.13:g.107342260T>C , CM000669.1:g.107342260T>C	GRCh37
NC_000007.12:g.107129496T>C	NCBI36
NG_008489.1:g.46181T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.1804-12T>C MANE Select	ENSP00000494017.1:n.1804-12T>C
ENST00000644846.1:c.515-12T>C
ENST00000265715.7:c.1804-12T>C	ENSP00000265715.3:n.1804-12T>C
ENST00000480841.5:n.653-12T>C
ENST00000492030.2:n.91-12T>C
NM_000441.1:c.1804-12T>C	NP_000432.1:n.1804-12T>C
XM_005250425.1:c.1804-12T>C	XP_005250482.1:n.1804-12T>C
XM_005250425.2:c.1804-12T>C	XP_005250482.1:n.1804-12T>C
XM_017012318.1:c.1726-12T>C	XP_016867807.1:n.1726-12T>C
NM_000441.2:c.1804-12T>C MANE Select	NP_000432.1:n.1804-12T>C