Canonical Allele Identifier: CA164215547

Gene: SLC26A4

Linked Data

• dbSNP Id: rs961680140
• gnomAD v2: 7-107336824-G-C
• gnomAD v3: 7-107696379-G-C
• gnomAD v4: 7-107696379-G-C
• MyVariant Identifiers: chr7:g.107336824G>C (hg19) ; chr7:g.107696379G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107696379G>C , CM000669.2:g.107696379G>C	GRCh38
NC_000007.13:g.107336824G>C , CM000669.1:g.107336824G>C	GRCh37
NC_000007.12:g.107124060G>C	NCBI36
NG_008489.1:g.40745G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.1544+340G>C MANE Select	ENSP00000494017.1:n.1544+340G>C
ENST00000644846.1:c.255+340G>C
ENST00000265715.7:c.1544+340G>C	ENSP00000265715.3:n.1544+340G>C
ENST00000477350.5:n.391+340G>C
ENST00000480841.5:n.393+340G>C
NM_000441.1:c.1544+340G>C	NP_000432.1:n.1544+340G>C
XM_005250425.1:c.1544+340G>C	XP_005250482.1:n.1544+340G>C
XM_005250425.2:c.1544+340G>C	XP_005250482.1:n.1544+340G>C
XM_017012318.1:c.1466+340G>C	XP_016867807.1:n.1466+340G>C
NM_000441.2:c.1544+340G>C MANE Select	NP_000432.1:n.1544+340G>C