Canonical Allele Identifier: CA626220917
Gene: G6PC1 HGNC NCBI

Linked Data

dbSNP Id: rs1398370649
gnomAD v2: 17-41063444-G-C
gnomAD v3: 17-42911427-G-C
gnomAD v4: 17-42911427-G-C
MyVariant Identifiers: chr17:g.41063444G>C (hg19) chr17:g.42911427G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911427G>C , CM000679.2:g.42911427G>C GRCh38
NC_000017.10:g.41063444G>C , CM000679.1:g.41063444G>C GRCh37
NC_000017.9:g.38316970G>C NCBI36
NG_011808.1:g.15630G>C , LRG_147:g.15630G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.*1G>C MANE Select ENSP00000253801.1:n.*1G>C
ENST00000253801.6:c.*1G>C ENSP00000253801.1:n.*1G>C
ENST00000585489.1:c.*467G>C ENSP00000466202.1:n.*467G>C
NM_000151.3:c.*1G>C NP_000142.2:n.*1G>C
NM_001270397.1:c.*467G>C NP_001257326.1:n.*467G>C
NM_000151.4:c.*1G>C MANE Select NP_000142.2:n.*1G>C
NM_001270397.2:c.*467G>C NP_001257326.1:n.*467G>C
Search 100 bp 5'
Search 100 bp 3'