Canonical Allele Identifier: CA617218462

Gene: EIF2AK4

Linked Data

• dbSNP Id: rs1318005041
• gnomAD v2: 15-40270369-T-C
• gnomAD v4: 15-39978168-T-C
• MyVariant Identifiers: chr15:g.40270369T>C (hg19) ; chr15:g.39978168T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.39978168T>C , CM000677.2:g.39978168T>C	GRCh38
NC_000015.9:g.40270369T>C , CM000677.1:g.40270369T>C	GRCh37
NC_000015.8:g.38057661T>C	NCBI36
NG_034053.1:g.49045T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263791.10:c.2319+21T>C MANE Select	ENSP00000263791.5:n.2319+21T>C
ENST00000263791.9:c.2319+21T>C	ENSP00000263791.5:n.2319+21T>C
ENST00000560855.5:c.1735+21T>C
ENST00000624709.1:n.1190T>C
NM_001013703.3:c.2319+21T>C	NP_001013725.2:n.2319+21T>C
XM_005254392.1:c.2319+21T>C	XP_005254449.1:n.2319+21T>C
XM_011521599.1:c.2319+21T>C	XP_011519901.1:n.2319+21T>C
XM_011521600.1:c.2319+21T>C	XP_011519902.1:n.2319+21T>C
XM_005254392.3:c.2319+21T>C	XP_005254449.1:n.2319+21T>C
XM_011521599.2:c.2319+21T>C	XP_011519901.1:n.2319+21T>C
XM_011521600.3:c.2319+21T>C	XP_011519902.1:n.2319+21T>C
XM_017022219.2:c.2319+21T>C	XP_016877708.1:n.2319+21T>C
NM_001013703.4:c.2319+21T>C MANE Select	NP_001013725.2:n.2319+21T>C