Canonical Allele Identifier: CA019257
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 95416
ClinVar RCV Id: RCV000081438 RCV000259998 RCV000317495 RCV000713338 RCV001081121 RCV003445503 RCV003445502 RCV003445501
dbSNP Id: rs13306757
ExAC: 1:43395537 C / G
gnomAD v2: 1-43395537-C-G
gnomAD v3: 1-42929866-C-G
gnomAD v4: 1-42929866-C-G
MyVariant Identifiers: chr1:g.43395537C>G (hg19) chr1:g.42929866C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929866C>G , CM000663.2:g.42929866C>G GRCh38
NC_000001.10:g.43395537C>G , CM000663.1:g.43395537C>G GRCh37
NC_000001.9:g.43168124C>G NCBI36
NG_008232.1:g.34311G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.679+7G>C MANE Select ENSP00000416293.2:n.679+7G>C
ENST00000669445.1:c.56+7G>C
ENST00000674765.1:c.679+7G>C ENSP00000501811.1:n.679+7G>C
ENST00000675112.1:n.702+7G>C
ENST00000676254.1:n.1128+7G>C
ENST00000426263.7:c.679+7G>C ENSP00000416293.2:n.679+7G>C
ENST00000439722.2:c.558+7G>C ENSP00000395521.2:n.558+7G>C
ENST00000475162.3:c.415+760G>C
ENST00000630287.2:c.517-86G>C ENSP00000486694.1:n.517-86G>C
NM_006516.2:c.679+7G>C NP_006507.2:n.679+7G>C
NM_006516.3:c.679+7G>C NP_006507.2:n.679+7G>C
NM_006516.4:c.679+7G>C MANE Select NP_006507.2:n.679+7G>C
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