Canonical Allele Identifier: CA391676936

Gene: EIF2AK4

Linked Data

• MyVariant Identifiers: chr15:g.40313137T>C (hg19) ; chr15:g.40020936T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40020936T>C , CM000677.2:g.40020936T>C	GRCh38
NC_000015.9:g.40313137T>C , CM000677.1:g.40313137T>C	GRCh37
NC_000015.8:g.38100429T>C	NCBI36
NG_034053.1:g.91813T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000263791.10:c.4211T>C MANE Select	ENSP00000263791.5:p.Val1404Ala
ENST00000263791.9:c.4211T>C	ENSP00000263791.5:p.Val1404Ala
ENST00000558557.1:n.1203T>C
ENST00000558629.5:n.3128T>C
ENST00000558743.1:n.411T>C
ENST00000560855.5:c.3543T>C
NM_001013703.3:c.4211T>C	NP_001013725.2:p.Val1404Ala
XM_005254392.1:c.4211T>C	XP_005254449.1:p.Val1404Ala
XM_011521599.1:c.4211T>C	XP_011519901.1:p.Val1404Ala
XM_011521600.1:c.4040T>C	XP_011519902.1:p.Val1347Ala
XM_005254392.3:c.4211T>C	XP_005254449.1:p.Val1404Ala
XM_011521599.2:c.4211T>C	XP_011519901.1:p.Val1404Ala
XM_011521600.3:c.4040T>C	XP_011519902.1:p.Val1347Ala
XM_017022219.2:c.4040T>C	XP_016877708.1:p.Val1347Ala
NM_001013703.4:c.4211T>C MANE Select	NP_001013725.2:p.Val1404Ala