Canonical Allele Identifier: CA368844578

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 556305
• ClinVar RCV Id: RCV000672298
• dbSNP Id: rs1554361624
• MyVariant Identifiers: chr7:g.107344832T>A (hg19) ; chr7:g.107704387T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107704387T>A , CM000669.2:g.107704387T>A	GRCh38
NC_000007.13:g.107344832T>A , CM000669.1:g.107344832T>A	GRCh37
NC_000007.12:g.107132068T>A	NCBI36
NG_008489.1:g.48753T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.2089+2T>A MANE Select	ENSP00000494017.1:n.2089+2T>A
ENST00000644846.1:c.745+2330T>A
ENST00000265715.7:c.2089+2T>A	ENSP00000265715.3:n.2089+2T>A
ENST00000492030.2:n.376+2T>A
NM_000441.1:c.2089+2T>A	NP_000432.1:n.2089+2T>A
XM_005250425.1:c.2089+2T>A	XP_005250482.1:n.2089+2T>A
XM_005250425.2:c.2089+2T>A	XP_005250482.1:n.2089+2T>A
XM_017012318.1:c.2011+2T>A	XP_016867807.1:n.2011+2T>A
NM_000441.2:c.2089+2T>A MANE Select	NP_000432.1:n.2089+2T>A