Canonical Allele Identifier: CA164218516

Gene: SLC26A4

Linked Data

• dbSNP Id: rs148628501
• gnomAD v3: 7-107701893-C-G
• gnomAD v4: 7-107701893-C-G
• MyVariant Identifiers: chr7:g.107342338C>G (hg19) ; chr7:g.107701893C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107701893C>G , CM000669.2:g.107701893C>G	GRCh38
NC_000007.13:g.107342338C>G , CM000669.1:g.107342338C>G	GRCh37
NC_000007.12:g.107129574C>G	NCBI36
NG_008489.1:g.46259C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.1870C>G MANE Select	ENSP00000494017.1:p.Leu624Val
ENST00000644846.1:c.581C>G
ENST00000265715.7:c.1870C>G	ENSP00000265715.3:p.Leu624Val
ENST00000492030.2:n.157C>G
NM_000441.1:c.1870C>G	NP_000432.1:p.Leu624Val
XM_005250425.1:c.1870C>G	XP_005250482.1:p.Leu624Val
XM_005250425.2:c.1870C>G	XP_005250482.1:p.Leu624Val
XM_017012318.1:c.1792C>G	XP_016867807.1:p.Leu598Val
NM_000441.2:c.1870C>G MANE Select	NP_000432.1:p.Leu624Val