Canonical Allele Identifier: CA261421
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 43528
ClinVar RCV Id: 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
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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
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