Canonical Allele Identifier: CA164214225

Gene: SLC26A4

Linked Data

• dbSNP Id: rs753456377
• gnomAD v3: 7-107694345-G-C
• gnomAD v4: 7-107694345-G-C
• MyVariant Identifiers: chr7:g.107334790G>C (hg19) ; chr7:g.107694345G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107694345G>C , CM000669.2:g.107694345G>C	GRCh38
NC_000007.13:g.107334790G>C , CM000669.1:g.107334790G>C	GRCh37
NC_000007.12:g.107122026G>C	NCBI36
NG_008489.1:g.38711G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.1264-58G>C MANE Select	ENSP00000494017.1:n.1264-58G>C
ENST00000265715.7:c.1264-58G>C	ENSP00000265715.3:n.1264-58G>C
ENST00000460748.1:n.367-58G>C
ENST00000477350.5:n.189-276G>C
ENST00000480841.5:n.113-58G>C
ENST00000497446.5:n.279-58G>C
NM_000441.1:c.1264-58G>C	NP_000432.1:n.1264-58G>C
XM_005250425.1:c.1264-58G>C	XP_005250482.1:n.1264-58G>C
XM_006716025.2:c.*785G>C	XP_006716088.1:n.*785G>C
XM_005250425.2:c.1264-58G>C	XP_005250482.1:n.1264-58G>C
XM_006716025.3:c.*785G>C	XP_006716088.1:n.*785G>C
XM_017012318.1:c.1264-276G>C	XP_016867807.1:n.1264-276G>C
NM_000441.2:c.1264-58G>C MANE Select	NP_000432.1:n.1264-58G>C