Canonical Allele Identifier: CA374986448

Gene: ENG

Linked Data

• ClinVar Variation Id: 2921006
• ClinVar RCV Id: RCV003641376
• MyVariant Identifiers: chr9:g.130592105C>G (hg19) ; chr9:g.127829826C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127829826C>G , CM000671.2:g.127829826C>G	GRCh38
NC_000009.11:g.130592105C>G , CM000671.1:g.130592105C>G	GRCh37
NC_000009.10:g.129631926C>G	NCBI36
NG_009551.1:g.29943G>C , LRG_589:g.29943G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.-326G>C	ENSP00000479015.1:n.-326G>C
ENST00000373203.9:c.221G>C MANE Select	ENSP00000362299.4:p.Gly74Ala
ENST00000344849.4:c.221G>C	ENSP00000341917.3:p.Gly74Ala
ENST00000373203.8:c.221G>C	ENSP00000362299.4:p.Gly74Ala
ENST00000480266.5:c.-326G>C	ENSP00000479015.1:n.-326G>C
NM_000118.3:c.221G>C , LRG_589t1:c.221G>C	NP_000109.1:p.Gly74Ala
NM_001114753.2:c.221G>C , LRG_589t2:c.221G>C	NP_001108225.1:p.Gly74Ala
NM_001278138.1:c.-326G>C	NP_001265067.1:n.-326G>C
XR_001746952.2:n.83-2572C>G
NM_001114753.3:c.221G>C MANE Select	NP_001108225.1:p.Gly74Ala
NM_001278138.2:c.-326G>C	NP_001265067.1:n.-326G>C