Canonical Allele Identifier: CA803446
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 512372
ClinVar RCV Id: RCV000615669 RCV003631148
dbSNP Id: rs749185363
ExAC: 1:43395253 G / A
gnomAD v2: 1-43395253-G-A
gnomAD v3: 1-42929582-G-A
gnomAD v4: 1-42929582-G-A
MyVariant Identifiers: chr1:g.43395253G>A (hg19) chr1:g.42929582G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929582G>A , CM000663.2:g.42929582G>A GRCh38
NC_000001.10:g.43395253G>A , CM000663.1:g.43395253G>A GRCh37
NC_000001.9:g.43167840G>A NCBI36
NG_008232.1:g.34595C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.867+11C>T MANE Select ENSP00000416293.2:n.867+11C>T
ENST00000674765.1:c.867+11C>T ENSP00000501811.1:n.867+11C>T
ENST00000675112.1:n.901C>T
ENST00000676254.1:n.1316+11C>T
ENST00000426263.7:c.867+11C>T ENSP00000416293.2:n.867+11C>T
ENST00000439722.2:c.746+11C>T ENSP00000395521.2:n.746+11C>T
ENST00000475162.3:c.415+1044C>T
ENST00000630287.2:c.*182+11C>T ENSP00000486694.1:n.*182+11C>T
NM_006516.2:c.867+11C>T NP_006507.2:n.867+11C>T
NM_006516.3:c.867+11C>T NP_006507.2:n.867+11C>T
NM_006516.4:c.867+11C>T MANE Select NP_006507.2:n.867+11C>T
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