Canonical Allele Identifier: CA8599930
Gene: SLC4A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 323485
ClinVar RCV Id: RCV000294574 RCV000330864 RCV000388956
dbSNP Id: rs774513767
ExAC: 17:42326589 G / A
gnomAD v2: 17-42326589-G-A
gnomAD v3: 17-44249221-G-A
gnomAD v4: 17-44249221-G-A
MyVariant Identifiers: chr17:g.42326589G>A (hg19) chr17:g.44249221G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44249221G>A , CM000679.2:g.44249221G>A GRCh38
NC_000017.10:g.42326589G>A , CM000679.1:g.42326589G>A GRCh37
NC_000017.9:g.39682115G>A NCBI36
NG_007498.1:g.23914C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000262418.12:c.*1237C>T MANE Select ENSP00000262418.6:n.*1237C>T
ENST00000262418.10:c.*1237C>T ENSP00000262418.6:n.*1237C>T
ENST00000399246.3:c.*1237C>T ENSP00000382190.3:n.*1237C>T
ENST00000631130.1:c.-17C>T ENSP00000486787.1:n.-17C>T
NM_000342.3:c.*1237C>T NP_000333.1:n.*1237C>T
XM_005257593.3:c.*1237C>T XP_005257650.1:n.*1237C>T
XM_011525129.1:c.*1237C>T XP_011523431.1:n.*1237C>T
NM_000342.4:c.*1237C>T MANE Select NP_000333.1:n.*1237C>T
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