Canonical Allele Identifier: CA019248
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 159925
ClinVar RCV Id: RCV000147527 RCV000189343 RCV000648079 RCV004551281
dbSNP Id: rs139492241
ExAC: 1:43395540 G / T
gnomAD v2: 1-43395540-G-T
gnomAD v3: 1-42929869-G-T
gnomAD v4: 1-42929869-G-T
MyVariant Identifiers: chr1:g.43395540G>T (hg19) chr1:g.42929869G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929869G>T , CM000663.2:g.42929869G>T GRCh38
NC_000001.10:g.43395540G>T , CM000663.1:g.43395540G>T GRCh37
NC_000001.9:g.43168127G>T NCBI36
NG_008232.1:g.34308C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.679+4C>A MANE Select ENSP00000416293.2:n.679+4C>A
ENST00000669445.1:c.56+4C>A
ENST00000674765.1:c.679+4C>A ENSP00000501811.1:n.679+4C>A
ENST00000675112.1:n.702+4C>A
ENST00000676254.1:n.1128+4C>A
ENST00000426263.7:c.679+4C>A ENSP00000416293.2:n.679+4C>A
ENST00000439722.2:c.558+4C>A ENSP00000395521.2:n.558+4C>A
ENST00000475162.3:c.415+757C>A
ENST00000630287.2:c.517-89C>A ENSP00000486694.1:n.517-89C>A
NM_006516.2:c.679+4C>A NP_006507.2:n.679+4C>A
NM_006516.3:c.679+4C>A NP_006507.2:n.679+4C>A
NM_006516.4:c.679+4C>A MANE Select NP_006507.2:n.679+4C>A
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