Canonical Allele Identifier: CA318495
Gene: SLC2A1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.42927667C>T
GRCh37 chr1:g.43393338C>T
Revel Score:
ENST00000426263 (MANE Select) 0.168
ENST00000372501 0.168
ENST00000397019 0.168
gnomAD v2:
1:43393338 C / T
gnomAD v3:
1:42927667 C / T
gnomAD v4:
chr1-42927667-C-T
Joint Max Group AF 0.00073284 (AFR)
Genomes Max Group AF 0.0007262 (AFR)
Exomes Max Group AF 0.00059387 (AFR)
ClinVar RCV:
RCV000648102
ClinVar Variation:
207230
dbSNP:
148800393
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42927667C>T , CM000663.2:g.42927667C>T GRCh38
NC_000001.10:g.43393338C>T , CM000663.1:g.43393338C>T GRCh37
NC_000001.9:g.43165925C>T NCBI36
NG_008232.1:g.36510G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.1216G>A MANE Select ENSP00000416293.2:p.Val406Ile
ENST00000674545.1:n.1833G>A
ENST00000674765.1:c.1030-810G>A ENSP00000501811.1:n.1030-810G>A
ENST00000675112.1:n.1517G>A
ENST00000676254.1:n.1665G>A
ENST00000426263.7:c.1216G>A ENSP00000416293.2:p.Val406Ile
ENST00000475162.3:c.416-689G>A
ENST00000630287.2:c.*531G>A ENSP00000486694.1:n.*531G>A
NM_006516.2:c.1216G>A NP_006507.2:p.Val406Ile
NM_006516.3:c.1216G>A NP_006507.2:p.Val406Ile
NM_006516.4:c.1216G>A MANE Select NP_006507.2:p.Val406Ile
Search 100 bp 5'
Search 100 bp 3'