Canonical Allele Identifier: CA1732751458

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 2745782
• ClinVar RCV Id: RCV003568211
• dbSNP Id: rs1791680134

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107694489C>T , CM000669.2:g.107694489C>T	GRCh38
NC_000007.13:g.107334934C>T , CM000669.1:g.107334934C>T	GRCh37
NC_000007.12:g.107122170C>T	NCBI36
NG_008489.1:g.38855C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.1341+9C>T MANE Select	ENSP00000494017.1:n.1341+9C>T
ENST00000644846.1:c.52+9C>T
ENST00000265715.7:c.1341+9C>T	ENSP00000265715.3:n.1341+9C>T
ENST00000460748.1:n.444+9C>T
ENST00000477350.5:n.189-132C>T
ENST00000480841.5:n.190+9C>T
ENST00000497446.5:n.356+9C>T
NM_000441.1:c.1341+9C>T	NP_000432.1:n.1341+9C>T
XM_005250425.1:c.1341+9C>T	XP_005250482.1:n.1341+9C>T
XM_005250425.2:c.1341+9C>T	XP_005250482.1:n.1341+9C>T
XM_017012318.1:c.1264-132C>T	XP_016867807.1:n.1264-132C>T
NM_000441.2:c.1341+9C>T MANE Select	NP_000432.1:n.1341+9C>T