Canonical Allele Identifier: CA16043367
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 374095
ClinVar RCV Id: RCV000415296 RCV001197510 RCV001770291 RCV003445923 RCV003445921 RCV003114532 RCV003445922 RCV003445920
dbSNP Id: rs201748668
gnomAD v3: 1-42927113-C-G
gnomAD v4: 1-42927113-C-G
MyVariant Identifiers: chr1:g.43392784C>G (hg19) chr1:g.42927113C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42927113C>G , CM000663.2:g.42927113C>G GRCh38
NC_000001.10:g.43392784C>G , CM000663.1:g.43392784C>G GRCh37
NC_000001.9:g.43165371C>G NCBI36
NG_008232.1:g.37064G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.1407G>C MANE Select ENSP00000416293.2:p.Gln469His
ENST00000674545.1:n.2024G>C
ENST00000674765.1:c.1030-256G>C ENSP00000501811.1:n.1030-256G>C
ENST00000675112.1:n.1708G>C
ENST00000676254.1:n.1856G>C
ENST00000426263.7:c.1407G>C ENSP00000416293.2:p.Gln469His
ENST00000475162.3:c.416-135G>C
ENST00000630287.2:c.*722G>C ENSP00000486694.1:n.*722G>C
NM_006516.2:c.1407G>C NP_006507.2:p.Gln469His
NM_006516.3:c.1407G>C NP_006507.2:p.Gln469His
NM_006516.4:c.1407G>C MANE Select NP_006507.2:p.Gln469His
Search 100 bp 5'
Search 100 bp 3'