Canonical Allele Identifier: CA4432819

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 1192795
• ClinVar RCV Id: RCV001554978
• dbSNP Id: rs79531981
• ExAC: 7:107336364 A / G
• gnomAD v2: 7-107336364-A-G
• gnomAD v3: 7-107695919-A-G
• gnomAD v4: 7-107695919-A-G
• MyVariant Identifiers: chr7:g.107336364A>G (hg19) ; chr7:g.107336364_107336365delinsGT (hg19) ; chr7:g.107695919A>G (hg38) ; chr7:g.107695919_107695920delinsGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107695919A>G , CM000669.2:g.107695919A>G	GRCh38
NC_000007.13:g.107336364A>G , CM000669.1:g.107336364A>G	GRCh37
NC_000007.12:g.107123600A>G	NCBI36
NG_008489.1:g.40285A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.1438-14A>G MANE Select	ENSP00000494017.1:n.1438-14A>G
ENST00000644846.1:c.149-14A>G
ENST00000265715.7:c.1438-14A>G	ENSP00000265715.3:n.1438-14A>G
ENST00000460748.1:n.541-14A>G
ENST00000477350.5:n.285-14A>G
ENST00000480841.5:n.287-14A>G
ENST00000497446.5:n.453-14A>G
NM_000441.1:c.1438-14A>G	NP_000432.1:n.1438-14A>G
XM_005250425.1:c.1438-14A>G	XP_005250482.1:n.1438-14A>G
XM_005250425.2:c.1438-14A>G	XP_005250482.1:n.1438-14A>G
XM_017012318.1:c.1360-14A>G	XP_016867807.1:n.1360-14A>G
NM_000441.2:c.1438-14A>G MANE Select	NP_000432.1:n.1438-14A>G