Canonical Allele Identifier: CA4432997

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 227952
• ClinVar RCV Id: RCV000223046 ; RCV000944995
• dbSNP Id: rs749013429
• ExAC: 7:107342475 C / T
• gnomAD v2: 7-107342475-C-T
• gnomAD v4: 7-107702030-C-T
• COSMIC: COSM1083879
• MyVariant Identifiers: chr7:g.107342475C>T (hg19) ; chr7:g.107342475_107342481delinsTGTTGTT (hg19) ; chr7:g.107702030C>T (hg38) ; chr7:g.107702030_107702036delinsTGTTGTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107702030C>T , CM000669.2:g.107702030C>T	GRCh38
NC_000007.13:g.107342475C>T , CM000669.1:g.107342475C>T	GRCh37
NC_000007.12:g.107129711C>T	NCBI36
NG_008489.1:g.46396C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.2007C>T MANE Select	ENSP00000494017.1:p.Asp669=
ENST00000644846.1:c.718C>T
ENST00000265715.7:c.2007C>T	ENSP00000265715.3:p.Asp669=
ENST00000492030.2:n.294C>T
NM_000441.1:c.2007C>T	NP_000432.1:p.Asp669=
XM_005250425.1:c.2007C>T	XP_005250482.1:p.Asp669=
XM_005250425.2:c.2007C>T	XP_005250482.1:p.Asp669=
XM_017012318.1:c.1929C>T	XP_016867807.1:p.Asp643=
NM_000441.2:c.2007C>T MANE Select	NP_000432.1:p.Asp669=