Canonical Allele Identifier: CA457103233

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 1956745
• ClinVar RCV Id: RCV002720329
• gnomAD v4: 7-107701895-G-A
• MyVariant Identifiers: chr7:g.107342340G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107701895G>A , CM000669.2:g.107701895G>A	GRCh38
NC_000007.13:g.107342340G>A , CM000669.1:g.107342340G>A	GRCh37
NC_000007.12:g.107129576G>A	NCBI36
NG_008489.1:g.46261G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.1872G>A MANE Select	ENSP00000494017.1:p.Leu624=
ENST00000644846.1:c.583G>A
ENST00000265715.7:c.1872G>A	ENSP00000265715.3:p.Leu624=
ENST00000492030.2:n.159G>A
NM_000441.1:c.1872G>A	NP_000432.1:p.Leu624=
XM_005250425.1:c.1872G>A	XP_005250482.1:p.Leu624=
XM_005250425.2:c.1872G>A	XP_005250482.1:p.Leu624=
XM_017012318.1:c.1794G>A	XP_016867807.1:p.Leu598=
NM_000441.2:c.1872G>A MANE Select	NP_000432.1:p.Leu624=