Canonical Allele Identifier: CA803460
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1058841
ClinVar RCV Id: RCV001368020
dbSNP Id: rs773788706
ExAC: 1:43395397 T / C
gnomAD v2: 1-43395397-T-C
gnomAD v3: 1-42929726-T-C
gnomAD v4: 1-42929726-T-C
MyVariant Identifiers: chr1:g.43395397T>C (hg19) chr1:g.42929726T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929726T>C , CM000663.2:g.42929726T>C GRCh38
NC_000001.10:g.43395397T>C , CM000663.1:g.43395397T>C GRCh37
NC_000001.9:g.43167984T>C NCBI36
NG_008232.1:g.34451A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.734A>G MANE Select ENSP00000416293.2:p.Lys245Arg
ENST00000669445.1:c.64A>G
ENST00000674765.1:c.734A>G ENSP00000501811.1:p.Lys245Arg
ENST00000675112.1:n.757A>G
ENST00000676254.1:n.1183A>G
ENST00000426263.7:c.734A>G ENSP00000416293.2:p.Lys245Arg
ENST00000439722.2:c.613A>G ENSP00000395521.2:n.613A>G
ENST00000475162.3:c.415+900A>G
ENST00000630287.2:c.*49A>G ENSP00000486694.1:n.*49A>G
NM_006516.2:c.734A>G NP_006507.2:p.Lys245Arg
NM_006516.3:c.734A>G NP_006507.2:p.Lys245Arg
NM_006516.4:c.734A>G MANE Select NP_006507.2:p.Lys245Arg
Search 100 bp 5'
Search 100 bp 3'