Canonical Allele Identifier: CA368847270

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 557055
• ClinVar RCV Id: RCV000673144
• dbSNP Id: rs1554363892
• MyVariant Identifiers: chr7:g.107355867G>A (hg19) ; chr7:g.107715422G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107715422G>A , CM000669.2:g.107715422G>A	GRCh38
NC_000007.13:g.107355867G>A , CM000669.1:g.107355867G>A	GRCh37
NC_000007.12:g.107143103G>A	NCBI36
NG_008489.1:g.59788G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.2320-1G>A MANE Select	ENSP00000494017.1:n.2320-1G>A
ENST00000644846.1:c.976-1G>A
ENST00000265715.7:c.2320-1G>A	ENSP00000265715.3:n.2320-1G>A
ENST00000492030.2:n.506-1G>A
NM_000441.1:c.2320-1G>A	NP_000432.1:n.2320-1G>A
XM_005250425.1:c.2320-1G>A	XP_005250482.1:n.2320-1G>A
XM_005250425.2:c.2320-1G>A	XP_005250482.1:n.2320-1G>A
XM_017012318.1:c.2242-1G>A	XP_016867807.1:n.2242-1G>A
NM_000441.2:c.2320-1G>A MANE Select	NP_000432.1:n.2320-1G>A