Canonical Allele Identifier: CA803406
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1389085
ClinVar RCV Id: RCV001886983
dbSNP Id: rs764743728
ExAC: 1:43394954 T / G
gnomAD v2: 1-43394954-T-G
gnomAD v3: 1-42929283-T-G
gnomAD v4: 1-42929283-T-G
MyVariant Identifiers: chr1:g.43394954T>G (hg19) chr1:g.42929283T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929283T>G , CM000663.2:g.42929283T>G GRCh38
NC_000001.10:g.43394954T>G , CM000663.1:g.43394954T>G GRCh37
NC_000001.9:g.43167541T>G NCBI36
NG_008232.1:g.34894A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.899A>C MANE Select ENSP00000416293.2:p.Lys300Thr
ENST00000674545.1:n.217A>C
ENST00000674765.1:c.899A>C ENSP00000501811.1:p.Lys300Thr
ENST00000675112.1:n.1200A>C
ENST00000676254.1:n.1348A>C
ENST00000426263.7:c.899A>C ENSP00000416293.2:p.Lys300Thr
ENST00000439722.2:c.778A>C ENSP00000395521.2:n.778A>C
ENST00000475162.3:c.415+1343A>C
ENST00000630287.2:c.*214A>C ENSP00000486694.1:n.*214A>C
NM_006516.2:c.899A>C NP_006507.2:p.Lys300Thr
NM_006516.3:c.899A>C NP_006507.2:p.Lys300Thr
NM_006516.4:c.899A>C MANE Select NP_006507.2:p.Lys300Thr
Search 100 bp 5'
Search 100 bp 3'