Canonical Allele Identifier: CA4432957

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 550201
• ClinVar RCV Id: RCV000664877
• dbSNP Id: rs370827220
• ExAC: 7:107342249 T / C
• gnomAD v2: 7-107342249-T-C
• gnomAD v3: 7-107701804-T-C
• gnomAD v4: 7-107701804-T-C
• MyVariant Identifiers: chr7:g.107342249T>C (hg19) ; chr7:g.107701804T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107701804T>C , CM000669.2:g.107701804T>C	GRCh38
NC_000007.13:g.107342249T>C , CM000669.1:g.107342249T>C	GRCh37
NC_000007.12:g.107129485T>C	NCBI36
NG_008489.1:g.46170T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.1804-23T>C MANE Select	ENSP00000494017.1:n.1804-23T>C
ENST00000644846.1:c.515-23T>C
ENST00000265715.7:c.1804-23T>C	ENSP00000265715.3:n.1804-23T>C
ENST00000480841.5:n.653-23T>C
ENST00000492030.2:n.91-23T>C
NM_000441.1:c.1804-23T>C	NP_000432.1:n.1804-23T>C
XM_005250425.1:c.1804-23T>C	XP_005250482.1:n.1804-23T>C
XM_005250425.2:c.1804-23T>C	XP_005250482.1:n.1804-23T>C
XM_017012318.1:c.1726-23T>C	XP_016867807.1:n.1726-23T>C
NM_000441.2:c.1804-23T>C MANE Select	NP_000432.1:n.1804-23T>C