Canonical Allele Identifier: CA4433126

Gene: SLC26A4

Linked Data

• dbSNP Id: rs758347901
• ExAC: 7:107355865 C / T
• gnomAD v2: 7-107355865-C-T
• gnomAD v4: 7-107715420-C-T
• MyVariant Identifiers: chr7:g.107355865C>T (hg19) ; chr7:g.107715420C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107715420C>T , CM000669.2:g.107715420C>T	GRCh38
NC_000007.13:g.107355865C>T , CM000669.1:g.107355865C>T	GRCh37
NC_000007.12:g.107143101C>T	NCBI36
NG_008489.1:g.59786C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.2320-3C>T MANE Select	ENSP00000494017.1:n.2320-3C>T
ENST00000644846.1:c.976-3C>T
ENST00000265715.7:c.2320-3C>T	ENSP00000265715.3:n.2320-3C>T
ENST00000492030.2:n.506-3C>T
NM_000441.1:c.2320-3C>T	NP_000432.1:n.2320-3C>T
XM_005250425.1:c.2320-3C>T	XP_005250482.1:n.2320-3C>T
XM_005250425.2:c.2320-3C>T	XP_005250482.1:n.2320-3C>T
XM_017012318.1:c.2242-3C>T	XP_016867807.1:n.2242-3C>T
NM_000441.2:c.2320-3C>T MANE Select	NP_000432.1:n.2320-3C>T