Canonical Allele Identifier: CA261421

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 43528
• ClinVar RCV Id: RCV000036463 ; RCV000675129 ; RCV001731331 ; RCV003473269 ; RCV003727609
• dbSNP Id: rs397516424
• ExAC: 7:107342431 A / G
• gnomAD v2: 7-107342431-A-G
• gnomAD v3: 7-107701986-A-G
• gnomAD v4: 7-107701986-A-G
• MyVariant Identifiers: chr7:g.107342431A>G (hg19) ; chr7:g.107701986A>G (hg38)
• ERepo: CA261421/MONDO:0010134/005

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107701986A>G , CM000669.2:g.107701986A>G	GRCh38
NC_000007.13:g.107342431A>G , CM000669.1:g.107342431A>G	GRCh37
NC_000007.12:g.107129667A>G	NCBI36
NG_008489.1:g.46352A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.1963A>G MANE Select	ENSP00000494017.1:p.Ile655Val
ENST00000644846.1:c.674A>G
ENST00000265715.7:c.1963A>G	ENSP00000265715.3:p.Ile655Val
ENST00000492030.2:n.250A>G
NM_000441.1:c.1963A>G	NP_000432.1:p.Ile655Val
XM_005250425.1:c.1963A>G	XP_005250482.1:p.Ile655Val
XM_005250425.2:c.1963A>G	XP_005250482.1:p.Ile655Val
XM_017012318.1:c.1885A>G	XP_016867807.1:p.Ile629Val
NM_000441.2:c.1963A>G MANE Select	NP_000432.1:p.Ile655Val