Canonical Allele Identifier: CA290924016
Gene: SLC4A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 892510
ClinVar RCV Id: RCV001128595 RCV001128593 RCV001128594
dbSNP Id: rs566138996
gnomAD v2: 17-42326521-C-T
gnomAD v3: 17-44249153-C-T
gnomAD v4: 17-44249153-C-T
MyVariant Identifiers: chr17:g.42326521C>T (hg19) chr17:g.44249153C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44249153C>T , CM000679.2:g.44249153C>T GRCh38
NC_000017.10:g.42326521C>T , CM000679.1:g.42326521C>T GRCh37
NC_000017.9:g.39682047C>T NCBI36
NG_007498.1:g.23982G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262418.12:c.*1305G>A MANE Select ENSP00000262418.6:n.*1305G>A
ENST00000262418.10:c.*1305G>A ENSP00000262418.6:n.*1305G>A
ENST00000399246.3:c.*1305G>A ENSP00000382190.3:n.*1305G>A
ENST00000631130.1:c.52G>A ENSP00000486787.1:p.Ala18Thr
NM_000342.3:c.*1305G>A NP_000333.1:n.*1305G>A
XM_005257593.3:c.*1305G>A XP_005257650.1:n.*1305G>A
XM_011525129.1:c.*1305G>A XP_011523431.1:n.*1305G>A
NM_000342.4:c.*1305G>A MANE Select NP_000333.1:n.*1305G>A
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