Canonical Allele Identifier: CA489680322
Gene: EIF2AK4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.40270345T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.39978144T>C , CM000677.2:g.39978144T>C GRCh38
NC_000015.9:g.40270345T>C , CM000677.1:g.40270345T>C GRCh37
NC_000015.8:g.38057637T>C NCBI36
NG_034053.1:g.49021T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263791.10:c.2316T>C MANE Select ENSP00000263791.5:p.Asn772=
ENST00000263791.9:c.2316T>C ENSP00000263791.5:p.Asn772=
ENST00000560855.5:c.1732T>C
ENST00000624709.1:n.1166T>C
NM_001013703.3:c.2316T>C NP_001013725.2:p.Asn772=
XM_005254392.1:c.2316T>C XP_005254449.1:p.Asn772=
XM_011521599.1:c.2316T>C XP_011519901.1:p.Asn772=
XM_011521600.1:c.2316T>C XP_011519902.1:p.Asn772=
XM_005254392.3:c.2316T>C XP_005254449.1:p.Asn772=
XM_011521599.2:c.2316T>C XP_011519901.1:p.Asn772=
XM_011521600.3:c.2316T>C XP_011519902.1:p.Asn772=
XM_017022219.2:c.2316T>C XP_016877708.1:p.Asn772=
NM_001013703.4:c.2316T>C MANE Select NP_001013725.2:p.Asn772=