Canonical Allele Identifier: CA12631835
Gene: GCK HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.44189469C>T
GRCh37 chr7:g.44229068C>T
gnomAD v2:
7:44229068 C / T
gnomAD v3:
7:44189469 C / T
gnomAD v4:
chr7-44189469-C-T
Joint Max Group AF 0.19145383 (AMR)
Genomes Max Group AF 0.18987607 (AMR)
Exomes Max Group AF 0.18886239 (AMR)
ClinVar RCV:
RCV001671272
ClinVar Variation:
1258742
dbSNP:
1799884
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44189469C>T , CM000669.2:g.44189469C>T GRCh38
NC_000007.13:g.44229068C>T , CM000669.1:g.44229068C>T GRCh37
NC_000007.12:g.44195593C>T NCBI36
NG_008847.1:g.4955G>A
NG_008847.2:g.13702G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000476008.1:n.480+8222G>A
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