Canonical Allele Identifier: CA132683

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 43526
• ClinVar RCV Id: RCV000036461 ; RCV000317486 ; RCV000374325 ; RCV000713334 ; RCV002496563
• dbSNP Id: rs17154335
• ExAC: 7:107342294 T / G
• gnomAD v2: 7-107342294-T-G
• gnomAD v3: 7-107701849-T-G
• gnomAD v4: 7-107701849-T-G
• MyVariant Identifiers: chr7:g.107342294T>G (hg19) ; chr7:g.107701849T>G (hg38)
• PubMed: PMID:15689455 ; PMID:19017801 ; PMID:19204907 ; PMID:22116359 ; PMID:22389666 ; PMID:23185506 ; PMID:23273637

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107701849T>G , CM000669.2:g.107701849T>G	GRCh38
NC_000007.13:g.107342294T>G , CM000669.1:g.107342294T>G	GRCh37
NC_000007.12:g.107129530T>G	NCBI36
NG_008489.1:g.46215T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.1826T>G MANE Select	ENSP00000494017.1:p.Val609Gly
ENST00000644846.1:c.537T>G
ENST00000265715.7:c.1826T>G	ENSP00000265715.3:p.Val609Gly
ENST00000480841.5:n.675T>G
ENST00000492030.2:n.113T>G
NM_000441.1:c.1826T>G	NP_000432.1:p.Val609Gly
XM_005250425.1:c.1826T>G	XP_005250482.1:p.Val609Gly
XM_005250425.2:c.1826T>G	XP_005250482.1:p.Val609Gly
XM_017012318.1:c.1748T>G	XP_016867807.1:p.Val583Gly
NM_000441.2:c.1826T>G MANE Select	NP_000432.1:p.Val609Gly