Canonical Allele Identifier: CA374981852

Gene: ENG

Linked Data

• ClinVar Variation Id: 1768592
• ClinVar RCV Id: RCV002382809
• MyVariant Identifiers: chr9:g.130587078C>G (hg19) ; chr9:g.127824799C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824799C>G , CM000671.2:g.127824799C>G	GRCh38
NC_000009.11:g.130587078C>G , CM000671.1:g.130587078C>G	GRCh37
NC_000009.10:g.129626899C>G	NCBI36
NG_009551.1:g.34970G>C , LRG_589:g.34970G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.445+1G>C	ENSP00000479015.1:n.445+1G>C
ENST00000373203.9:c.991+1G>C MANE Select	ENSP00000362299.4:n.991+1G>C
ENST00000344849.4:c.991+1G>C	ENSP00000341917.3:n.991+1G>C
ENST00000373203.8:c.991+1G>C	ENSP00000362299.4:n.991+1G>C
ENST00000480266.5:c.445+1G>C	ENSP00000479015.1:n.445+1G>C
NM_000118.3:c.991+1G>C , LRG_589t1:c.991+1G>C	NP_000109.1:n.991+1G>C
NM_001114753.2:c.991+1G>C , LRG_589t2:c.991+1G>C	NP_001108225.1:n.991+1G>C
NM_001278138.1:c.445+1G>C	NP_001265067.1:n.445+1G>C
NM_001114753.3:c.991+1G>C MANE Select	NP_001108225.1:n.991+1G>C
NM_001278138.2:c.445+1G>C	NP_001265067.1:n.445+1G>C