Canonical Allele Identifier: CA467222127

Gene: ENG

Linked Data

• MyVariant Identifiers: chr9:g.130579368C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127817089C>G , CM000671.2:g.127817089C>G	GRCh38
NC_000009.11:g.130579368C>G , CM000671.1:g.130579368C>G	GRCh37
NC_000009.10:g.129619189C>G	NCBI36
NG_009551.1:g.42680G>C , LRG_589:g.42680G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.1195+60G>C	ENSP00000479015.1:n.1195+60G>C
ENST00000373203.9:c.1741+60G>C MANE Select	ENSP00000362299.4:n.1741+60G>C
ENST00000344849.4:c.1741+60G>C	ENSP00000341917.3:n.1741+60G>C
ENST00000373203.8:c.1741+60G>C	ENSP00000362299.4:n.1741+60G>C
ENST00000480266.5:c.1195+60G>C	ENSP00000479015.1:n.1195+60G>C
NM_000118.3:c.1741+60G>C , LRG_589t1:c.1741+60G>C	NP_000109.1:n.1741+60G>C
NM_001114753.2:c.1741+60G>C , LRG_589t2:c.1741+60G>C	NP_001108225.1:n.1741+60G>C
NM_001278138.1:c.1195+60G>C	NP_001265067.1:n.1195+60G>C
XM_011519273.1:c.511C>G	XP_011517575.1:p.Leu171Val
NR_136302.1:n.1024C>G
NM_001114753.3:c.1741+60G>C MANE Select	NP_001108225.1:n.1741+60G>C
NM_001278138.2:c.1195+60G>C	NP_001265067.1:n.1195+60G>C