Canonical Allele Identifier: CA274174

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 188950
• ClinVar RCV Id: RCV000169324 ; RCV000625825
• dbSNP Id: rs786204581
• gnomAD v4: 7-107663366-C-T
• MyVariant Identifiers: chr7:g.107303811C>T (hg19) ; chr7:g.107663366C>T (hg38)
• PubMed: PMID:18813951 ; PMID:19648736 ; PMID:19718752 ; PMID:25149764

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107663366C>T , CM000669.2:g.107663366C>T	GRCh38
NC_000007.13:g.107303811C>T , CM000669.1:g.107303811C>T	GRCh37
NC_000007.12:g.107091047C>T	NCBI36
NG_008489.1:g.7732C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.235C>T MANE Select	ENSP00000494017.1:p.Arg79Ter
ENST00000265715.7:c.235C>T	ENSP00000265715.3:p.Arg79Ter
ENST00000440056.1:c.235C>T	ENSP00000394760.1:p.Arg79Ter
NM_000441.1:c.235C>T	NP_000432.1:p.Arg79Ter
XM_005250425.1:c.235C>T	XP_005250482.1:p.Arg79Ter
XM_006716025.2:c.235C>T	XP_006716088.1:p.Arg79Ter
XM_005250425.2:c.235C>T	XP_005250482.1:p.Arg79Ter
XM_006716025.3:c.235C>T	XP_006716088.1:p.Arg79Ter
XM_017012318.1:c.235C>T	XP_016867807.1:p.Arg79Ter
NM_000441.2:c.235C>T MANE Select	NP_000432.1:p.Arg79Ter