Canonical Allele Identifier: CA391685743

Gene: EIF2AK4

Linked Data

• gnomAD v4: 15-39978129-C-A
• MyVariant Identifiers: chr15:g.40270330C>A (hg19) ; chr15:g.39978129C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.39978129C>A , CM000677.2:g.39978129C>A	GRCh38
NC_000015.9:g.40270330C>A , CM000677.1:g.40270330C>A	GRCh37
NC_000015.8:g.38057622C>A	NCBI36
NG_034053.1:g.49006C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263791.10:c.2301C>A MANE Select	ENSP00000263791.5:p.Asn767Lys
ENST00000263791.9:c.2301C>A	ENSP00000263791.5:p.Asn767Lys
ENST00000560855.5:c.1717C>A
ENST00000624709.1:n.1151C>A
NM_001013703.3:c.2301C>A	NP_001013725.2:p.Asn767Lys
XM_005254392.1:c.2301C>A	XP_005254449.1:p.Asn767Lys
XM_011521599.1:c.2301C>A	XP_011519901.1:p.Asn767Lys
XM_011521600.1:c.2301C>A	XP_011519902.1:p.Asn767Lys
XM_005254392.3:c.2301C>A	XP_005254449.1:p.Asn767Lys
XM_011521599.2:c.2301C>A	XP_011519901.1:p.Asn767Lys
XM_011521600.3:c.2301C>A	XP_011519902.1:p.Asn767Lys
XM_017022219.2:c.2301C>A	XP_016877708.1:p.Asn767Lys
NM_001013703.4:c.2301C>A MANE Select	NP_001013725.2:p.Asn767Lys