Canonical Allele Identifier: CA4432881

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 227950
• ClinVar RCV Id: RCV000214483 ; RCV000896071
• dbSNP Id: rs181882513
• ExAC: 7:107338550 C / T
• gnomAD v2: 7-107338550-C-T
• gnomAD v3: 7-107698105-C-T
• gnomAD v4: 7-107698105-C-T
• MyVariant Identifiers: chr7:g.107338550C>T (hg19) ; chr7:g.107698105C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107698105C>T , CM000669.2:g.107698105C>T	GRCh38
NC_000007.13:g.107338550C>T , CM000669.1:g.107338550C>T	GRCh37
NC_000007.12:g.107125786C>T	NCBI36
NG_008489.1:g.42471C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.1608C>T MANE Select	ENSP00000494017.1:p.Tyr536=
ENST00000644846.1:c.319C>T
ENST00000265715.7:c.1608C>T	ENSP00000265715.3:p.Tyr536=
ENST00000477350.5:n.455C>T
ENST00000480841.5:n.457C>T
NM_000441.1:c.1608C>T	NP_000432.1:p.Tyr536=
XM_005250425.1:c.1608C>T	XP_005250482.1:p.Tyr536=
XM_005250425.2:c.1608C>T	XP_005250482.1:p.Tyr536=
XM_017012318.1:c.1530C>T	XP_016867807.1:p.Tyr510=
NM_000441.2:c.1608C>T MANE Select	NP_000432.1:p.Tyr536=