Canonical Allele Identifier: CA803327
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1537737
ClinVar RCV Id: RCV002092754
dbSNP Id: rs367864071
ExAC: 1:43393354 A / G
gnomAD v2: 1-43393354-A-G
gnomAD v3: 1-42927683-A-G
gnomAD v4: 1-42927683-A-G
MyVariant Identifiers: chr1:g.43393354A>G (hg19) chr1:g.42927683A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42927683A>G , CM000663.2:g.42927683A>G GRCh38
NC_000001.10:g.43393354A>G , CM000663.1:g.43393354A>G GRCh37
NC_000001.9:g.43165941A>G NCBI36
NG_008232.1:g.36494T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.1200T>C MANE Select ENSP00000416293.2:p.Arg400=
ENST00000674545.1:n.1817T>C
ENST00000674765.1:c.1030-826T>C ENSP00000501811.1:n.1030-826T>C
ENST00000675112.1:n.1501T>C
ENST00000676254.1:n.1649T>C
ENST00000426263.7:c.1200T>C ENSP00000416293.2:p.Arg400=
ENST00000475162.3:c.416-705T>C
ENST00000630287.2:c.*515T>C ENSP00000486694.1:n.*515T>C
NM_006516.2:c.1200T>C NP_006507.2:p.Arg400=
NM_006516.3:c.1200T>C NP_006507.2:p.Arg400=
NM_006516.4:c.1200T>C MANE Select NP_006507.2:p.Arg400=
Search 100 bp 5'
Search 100 bp 3'