Canonical Allele Identifier: CA803273
Gene: SLC2A1 HGNC NCBI

Linked Data

dbSNP Id: rs780698077
ExAC: 1:43392708 C / T
gnomAD v2: 1-43392708-C-T
gnomAD v3: 1-42927037-C-T
gnomAD v4: 1-42927037-C-T
MyVariant Identifiers: chr1:g.43392708C>T (hg19) chr1:g.42927037C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42927037C>T , CM000663.2:g.42927037C>T GRCh38
NC_000001.10:g.43392708C>T , CM000663.1:g.43392708C>T GRCh37
NC_000001.9:g.43165295C>T NCBI36
NG_008232.1:g.37140G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000426263.10:c.*4G>A MANE Select ENSP00000416293.2:n.*4G>A
ENST00000674545.1:n.2100G>A
ENST00000674765.1:c.1030-180G>A ENSP00000501811.1:n.1030-180G>A
ENST00000675112.1:n.1784G>A
ENST00000676254.1:n.1932G>A
ENST00000426263.7:c.*4G>A ENSP00000416293.2:n.*4G>A
ENST00000475162.3:c.416-59G>A
ENST00000630287.2:c.*798G>A ENSP00000486694.1:n.*798G>A
NM_006516.2:c.*4G>A NP_006507.2:n.*4G>A
NM_006516.3:c.*4G>A NP_006507.2:n.*4G>A
NM_006516.4:c.*4G>A MANE Select NP_006507.2:n.*4G>A
Search 100 bp 5'
Search 100 bp 3'