Canonical Allele Identifier: CA119276

Gene: EFEMP1

Linked Data

• ClinVar Variation Id: 8072
• ClinVar RCV Id: RCV000008539 ; RCV000726861 ; RCV001074275
• dbSNP Id: rs121434491
• gnomAD v4: 2-55871091-G-A
• COSMIC: COSM77633
• MyVariant Identifiers: chr2:g.56098226G>A (hg19) ; chr2:g.55871091G>A (hg38)
• PubMed: PMID:10369267 ; PMID:11389162 ; PMID:17666404 ; PMID:22031286

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55871091G>A , CM000664.2:g.55871091G>A	GRCh38
NC_000002.11:g.56098226G>A , CM000664.1:g.56098226G>A	GRCh37
NC_000002.10:g.55951730G>A	NCBI36
NG_009098.1:g.57707C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355426.8:c.1033C>T MANE Select	ENSP00000347596.3:p.Arg345Trp
ENST00000355426.7:c.1033C>T	ENSP00000347596.3:p.Arg345Trp
ENST00000394555.6:c.1033C>T	ENSP00000378058.2:p.Arg345Trp
ENST00000634374.1:c.392C>T
ENST00000635671.1:c.*685C>T	ENSP00000489578.1:n.*685C>T
NM_001039348.2:c.1033C>T	NP_001034437.1:p.Arg345Trp
NM_001039349.2:c.1033C>T	NP_001034438.1:p.Arg345Trp
XM_005264205.3:c.1183C>T	XP_005264262.1:p.Arg395Trp
XR_940108.1:n.229-2792G>A
XM_005264205.4:c.1183C>T	XP_005264262.1:p.Arg395Trp
XM_017003586.2:c.793C>T	XP_016859075.1:p.Arg265Trp
XM_024452755.1:c.1033C>T	XP_024308523.1:p.Arg345Trp
XM_024452756.1:c.1033C>T	XP_024308524.1:p.Arg345Trp
XM_024452757.1:c.793C>T	XP_024308525.1:p.Arg265Trp
XR_002959388.1:n.229-2792G>A
NM_001039348.3:c.1033C>T MANE Select	NP_001034437.1:p.Arg345Trp
NM_001039349.3:c.1033C>T	NP_001034438.1:p.Arg345Trp