Canonical Allele Identifier: CA457104644

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 1587939
• ClinVar RCV Id: RCV002095734
• dbSNP Id: rs2129319944
• MyVariant Identifiers: chr7:g.107350611A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107710166A>G , CM000669.2:g.107710166A>G	GRCh38
NC_000007.13:g.107350611A>G , CM000669.1:g.107350611A>G	GRCh37
NC_000007.12:g.107137847A>G	NCBI36
NG_008489.1:g.54532A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.2202A>G MANE Select	ENSP00000494017.1:p.Lys734=
ENST00000644846.1:c.858A>G
ENST00000265715.7:c.2202A>G	ENSP00000265715.3:p.Lys734=
ENST00000492030.2:n.388A>G
NM_000441.1:c.2202A>G	NP_000432.1:p.Lys734=
XM_005250425.1:c.2202A>G	XP_005250482.1:p.Lys734=
XM_005250425.2:c.2202A>G	XP_005250482.1:p.Lys734=
XM_017012318.1:c.2124A>G	XP_016867807.1:p.Lys708=
NM_000441.2:c.2202A>G MANE Select	NP_000432.1:p.Lys734=