Canonical Allele Identifier: CA028712

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 4816
• ClinVar RCV Id: RCV000005085
• PubMed: PMID:9500541 ; PMID:18310264

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.[107695963A>C;107695984G>A] , CM000669.2:g.[107695963A>C;107695984G>A]	GRCh38
NC_000007.13:g.[107336408A>C;107336429G>A] , CM000669.1:g.[107336408A>C;107336429G>A]	GRCh37
NC_000007.12:g.[107123644A>C;107123665G>A]	NCBI36
NG_008489.1:g.[40329A>C;40350G>A]

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.[1468A>C;1489G>A] MANE Select	ENSP00000494017.1:p.[Ile490Leu;Gly497Ser]...
ENST00000644846.1:c.[179A>C;200G>A]
ENST00000265715.7:c.[1468A>C;1489G>A]	ENSP00000265715.3:p.[Ile490Leu;Gly497Ser]...
ENST00000477350.5:n.[315A>C;336G>A]
ENST00000480841.5:n.[317A>C;338G>A]
ENST00000497446.5:n.[483A>C;504G>A]
NM_000441.1:c.[1468A>C;1489G>A]	NP_000432.1:p.[Ile490Leu;Gly497Ser]
XM_005250425.1:c.[1468A>C;1489G>A]	XP_005250482.1:p.[Ile490Leu;Gly497Ser]
XM_005250425.2:c.[1468A>C;1489G>A]	XP_005250482.1:p.[Ile490Leu;Gly497Ser]
XM_017012318.1:c.[1390A>C;1411G>A]	XP_016867807.1:p.[Ile464Leu;Gly471Ser]
NM_000441.2:c.[1468A>C;1489G>A] MANE Select	NP_000432.1:p.[Ile490Leu;Gly497Ser]