Canonical Allele Identifier: CA367400237

Gene: GCK

Linked Data

• gnomAD v4: 7-44146615-A-C
• MyVariant Identifiers: chr7:g.44186214A>C (hg19) ; chr7:g.44146615A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146615A>C , CM000669.2:g.44146615A>C	GRCh38
NC_000007.13:g.44186214A>C , CM000669.1:g.44186214A>C	GRCh37
NC_000007.12:g.44152739A>C	NCBI36
NG_008847.1:g.47809T>G
NG_008847.2:g.56556T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*865T>G	ENSP00000379142.4:n.*865T>G
ENST00000616242.5:c.857T>G	ENSP00000482149.2:p.Met286Arg
ENST00000683378.1:n.93T>G
ENST00000345378.7:c.870T>G	ENSP00000223366.2:p.Tyr290Ter
ENST00000403799.8:c.867T>G MANE Select	ENSP00000384247.3:p.Tyr289Ter
ENST00000671824.1:c.930T>G	ENSP00000500264.1:p.Tyr310Ter
ENST00000673284.1:c.867T>G	ENSP00000499852.1:p.Tyr289Ter
ENST00000345378.6:c.870T>G	ENSP00000223366.2:p.Tyr290Ter
ENST00000395796.7:c.864T>G	ENSP00000379142.3:p.Tyr288Ter
ENST00000403799.7:c.867T>G	ENSP00000384247.3:p.Tyr289Ter
ENST00000437084.1:c.816T>G	ENSP00000402840.1:p.Tyr272Ter
ENST00000473353.1:n.165T>G
ENST00000616242.4:c.864T>G	ENSP00000482149.1:p.Tyr288Ter
NM_000162.3:c.867T>G	NP_000153.1:p.Tyr289Ter
NM_033507.1:c.870T>G	NP_277042.1:p.Tyr290Ter
NM_033508.1:c.864T>G	NP_277043.1:p.Tyr288Ter
NM_000162.4:c.867T>G	NP_000153.1:p.Tyr289Ter
NM_001354800.1:c.867T>G	NP_001341729.1:p.Tyr289Ter
NM_001354801.1:c.8+4T>G	NP_001341730.1:n.8+4T>G
NM_033507.2:c.870T>G	NP_277042.1:p.Tyr290Ter
NM_033508.2:c.864T>G	NP_277043.1:p.Tyr288Ter
NM_000162.5:c.867T>G MANE Select	NP_000153.1:p.Tyr289Ter
NM_033507.3:c.870T>G	NP_277042.1:p.Tyr290Ter
NM_033508.3:c.864T>G	NP_277043.1:p.Tyr288Ter