Canonical Allele Identifier: CA4432504

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 423822
• ClinVar RCV Id: RCV000480978 ; RCV001785632 ; RCV001785633
• dbSNP Id: rs114473792
• ExAC: 7:107314728 G / A
• gnomAD v2: 7-107314728-G-A
• gnomAD v3: 7-107674283-G-A
• gnomAD v4: 7-107674283-G-A
• MyVariant Identifiers: chr7:g.107314728G>A (hg19) ; chr7:g.107674283G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107674283G>A , CM000669.2:g.107674283G>A	GRCh38
NC_000007.13:g.107314728G>A , CM000669.1:g.107314728G>A	GRCh37
NC_000007.12:g.107101964G>A	NCBI36
NG_008489.1:g.18649G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.535G>A MANE Select	ENSP00000494017.1:p.Ala179Thr
ENST00000265715.7:c.535G>A	ENSP00000265715.3:p.Ala179Thr
NM_000441.1:c.535G>A	NP_000432.1:p.Ala179Thr
XM_005250425.1:c.535G>A	XP_005250482.1:p.Ala179Thr
XM_006716025.2:c.535G>A	XP_006716088.1:p.Ala179Thr
XM_005250425.2:c.535G>A	XP_005250482.1:p.Ala179Thr
XM_006716025.3:c.535G>A	XP_006716088.1:p.Ala179Thr
XM_017012318.1:c.535G>A	XP_016867807.1:p.Ala179Thr
NM_000441.2:c.535G>A MANE Select	NP_000432.1:p.Ala179Thr