Canonical Allele Identifier: CA391676977

Gene: EIF2AK4

Linked Data

• MyVariant Identifiers: chr15:g.40313145A>C (hg19) ; chr15:g.40020944A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40020944A>C , CM000677.2:g.40020944A>C	GRCh38
NC_000015.9:g.40313145A>C , CM000677.1:g.40313145A>C	GRCh37
NC_000015.8:g.38100437A>C	NCBI36
NG_034053.1:g.91821A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000263791.10:c.4219A>C MANE Select	ENSP00000263791.5:p.Met1407Leu
ENST00000263791.9:c.4219A>C	ENSP00000263791.5:p.Met1407Leu
ENST00000558557.1:n.1211A>C
ENST00000558629.5:n.3136A>C
ENST00000558743.1:n.419A>C
ENST00000560855.5:c.3551A>C
NM_001013703.3:c.4219A>C	NP_001013725.2:p.Met1407Leu
XM_005254392.1:c.4219A>C	XP_005254449.1:p.Met1407Leu
XM_011521599.1:c.4219A>C	XP_011519901.1:p.Met1407Leu
XM_011521600.1:c.4048A>C	XP_011519902.1:p.Met1350Leu
XM_005254392.3:c.4219A>C	XP_005254449.1:p.Met1407Leu
XM_011521599.2:c.4219A>C	XP_011519901.1:p.Met1407Leu
XM_011521600.3:c.4048A>C	XP_011519902.1:p.Met1350Leu
XM_017022219.2:c.4048A>C	XP_016877708.1:p.Met1350Leu
NM_001013703.4:c.4219A>C MANE Select	NP_001013725.2:p.Met1407Leu