Canonical Allele Identifier: CA426226786

Gene: EFEMP1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55871062A>G , CM000664.2:g.55871062A>G	GRCh38
NC_000002.11:g.56098197A>G , CM000664.1:g.56098197A>G	GRCh37
NC_000002.10:g.55951701A>G	NCBI36
NG_009098.1:g.57736T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001039348.3:c.1062T>C MANE Select	NP_001034437.1:p.His354=
ENST00000355426.8:c.1062T>C MANE Select	ENSP00000347596.3:p.His354=
NM_001039348.2:c.1062T>C	NP_001034437.1:p.His354=
NM_001039349.2:c.1062T>C	NP_001034438.1:p.His354=
NM_001039349.3:c.1062T>C	NP_001034438.1:p.His354=
ENST00000355426.7:c.1062T>C	ENSP00000347596.3:p.His354=
ENST00000394555.6:c.1062T>C	ENSP00000378058.2:p.His354=
ENST00000634374.1:c.421T>C
ENST00000635671.1:c.*714T>C	ENSP00000489578.1:n.*714T>C
XM_005264205.3:c.1212T>C	XP_005264262.1:p.His404=
XM_005264205.4:c.1212T>C	XP_005264262.1:p.His404=
XM_017003586.2:c.822T>C	XP_016859075.1:p.His274=
XM_024452755.1:c.1062T>C	XP_024308523.1:p.His354=
XM_024452756.1:c.1062T>C	XP_024308524.1:p.His354=
XM_024452757.1:c.822T>C	XP_024308525.1:p.His274=
XR_002959388.1:n.229-2821A>G
XR_940108.1:n.229-2821A>G