Canonical Allele Identifier: CA803341
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2989086
ClinVar RCV Id: RCV003849237
dbSNP Id: rs188044902
ExAC: 1:43393494 G / A
gnomAD v2: 1-43393494-G-A
gnomAD v3: 1-42927823-G-A
gnomAD v4: 1-42927823-G-A
MyVariant Identifiers: chr1:g.43393494G>A (hg19) chr1:g.42927823G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42927823G>A , CM000663.2:g.42927823G>A GRCh38
NC_000001.10:g.43393494G>A , CM000663.1:g.43393494G>A GRCh37
NC_000001.9:g.43166081G>A NCBI36
NG_008232.1:g.36354C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.1075-15C>T MANE Select ENSP00000416293.2:n.1075-15C>T
ENST00000674545.1:n.1677C>T
ENST00000674765.1:c.1030-966C>T ENSP00000501811.1:n.1030-966C>T
ENST00000675112.1:n.1376-15C>T
ENST00000676254.1:n.1524-15C>T
ENST00000426263.7:c.1075-15C>T ENSP00000416293.2:n.1075-15C>T
ENST00000475162.3:c.416-845C>T
ENST00000630287.2:c.*390-15C>T ENSP00000486694.1:n.*390-15C>T
NM_006516.2:c.1075-15C>T NP_006507.2:n.1075-15C>T
NM_006516.3:c.1075-15C>T NP_006507.2:n.1075-15C>T
NM_006516.4:c.1075-15C>T MANE Select NP_006507.2:n.1075-15C>T
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