Canonical Allele Identifier: CA4239487

Gene: GCK

Linked Data

• dbSNP Id: rs370839758
• ExAC: 7:44186225 T / C
• gnomAD v2: 7-44186225-T-C
• gnomAD v3: 7-44146626-T-C
• gnomAD v4: 7-44146626-T-C
• MyVariant Identifiers: chr7:g.44186225T>C (hg19) ; chr7:g.44146626T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146626T>C , CM000669.2:g.44146626T>C	GRCh38
NC_000007.13:g.44186225T>C , CM000669.1:g.44186225T>C	GRCh37
NC_000007.12:g.44152750T>C	NCBI36
NG_008847.1:g.47798A>G
NG_008847.2:g.56545A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*862-8A>G	ENSP00000379142.4:n.*862-8A>G
ENST00000616242.5:c.854-8A>G	ENSP00000482149.2:n.854-8A>G
ENST00000683378.1:n.82A>G
ENST00000345378.7:c.867-8A>G	ENSP00000223366.2:n.867-8A>G
ENST00000403799.8:c.864-8A>G MANE Select	ENSP00000384247.3:n.864-8A>G
ENST00000671824.1:c.927-8A>G	ENSP00000500264.1:n.927-8A>G
ENST00000673284.1:c.864-8A>G	ENSP00000499852.1:n.864-8A>G
ENST00000345378.6:c.867-8A>G	ENSP00000223366.2:n.867-8A>G
ENST00000395796.7:c.861-8A>G	ENSP00000379142.3:n.861-8A>G
ENST00000403799.7:c.864-8A>G	ENSP00000384247.3:n.864-8A>G
ENST00000437084.1:c.813-8A>G	ENSP00000402840.1:n.813-8A>G
ENST00000473353.1:n.162-8A>G
ENST00000616242.4:c.861-8A>G	ENSP00000482149.1:n.861-8A>G
NM_000162.3:c.864-8A>G	NP_000153.1:n.864-8A>G
NM_033507.1:c.867-8A>G	NP_277042.1:n.867-8A>G
NM_033508.1:c.861-8A>G	NP_277043.1:n.861-8A>G
NM_000162.4:c.864-8A>G	NP_000153.1:n.864-8A>G
NM_001354800.1:c.864-8A>G	NP_001341729.1:n.864-8A>G
NM_001354801.1:c.1A>G	NP_001341730.1:p.Met1Val
NM_033507.2:c.867-8A>G	NP_277042.1:n.867-8A>G
NM_033508.2:c.861-8A>G	NP_277043.1:n.861-8A>G
NM_000162.5:c.864-8A>G MANE Select	NP_000153.1:n.864-8A>G
NM_033507.3:c.867-8A>G	NP_277042.1:n.867-8A>G
NM_033508.3:c.861-8A>G	NP_277043.1:n.861-8A>G