Canonical Allele Identifier: CA803340
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 378612
ClinVar RCV Id: RCV000420608 RCV002061519 RCV003445962 RCV003445963 RCV003445964 RCV003445961 RCV003445965
dbSNP Id: rs777450540
ExAC: 1:43393493 C / T
gnomAD v2: 1-43393493-C-T
gnomAD v3: 1-42927822-C-T
gnomAD v4: 1-42927822-C-T
MyVariant Identifiers: chr1:g.43393493C>T (hg19) chr1:g.42927822C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42927822C>T , CM000663.2:g.42927822C>T GRCh38
NC_000001.10:g.43393493C>T , CM000663.1:g.43393493C>T GRCh37
NC_000001.9:g.43166080C>T NCBI36
NG_008232.1:g.36355G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.1075-14G>A MANE Select ENSP00000416293.2:n.1075-14G>A
ENST00000674545.1:n.1678G>A
ENST00000674765.1:c.1030-965G>A ENSP00000501811.1:n.1030-965G>A
ENST00000675112.1:n.1376-14G>A
ENST00000676254.1:n.1524-14G>A
ENST00000426263.7:c.1075-14G>A ENSP00000416293.2:n.1075-14G>A
ENST00000475162.3:c.416-844G>A
ENST00000630287.2:c.*390-14G>A ENSP00000486694.1:n.*390-14G>A
NM_006516.2:c.1075-14G>A NP_006507.2:n.1075-14G>A
NM_006516.3:c.1075-14G>A NP_006507.2:n.1075-14G>A
NM_006516.4:c.1075-14G>A MANE Select NP_006507.2:n.1075-14G>A
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