Canonical Allele Identifier: CA860193881

Gene: ENG

Linked Data

• ClinVar Variation Id: 1554779
• ClinVar RCV Id: RCV002190369
• dbSNP Id: rs1271187725
• gnomAD v4: 9-127819884-T-G
• MyVariant Identifiers: chr9:g.130582163T>G (hg19) ; chr9:g.127819884T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127819884T>G , CM000671.2:g.127819884T>G	GRCh38
NC_000009.11:g.130582163T>G , CM000671.1:g.130582163T>G	GRCh37
NC_000009.10:g.129621984T>G	NCBI36
NG_009551.1:g.39885A>C , LRG_589:g.39885A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.726+16A>C	ENSP00000479015.1:n.726+16A>C
ENST00000373203.9:c.1272+16A>C MANE Select	ENSP00000362299.4:n.1272+16A>C
ENST00000344849.4:c.1272+16A>C	ENSP00000341917.3:n.1272+16A>C
ENST00000373203.8:c.1272+16A>C	ENSP00000362299.4:n.1272+16A>C
ENST00000480266.5:c.726+16A>C	ENSP00000479015.1:n.726+16A>C
ENST00000486329.1:n.240+16A>C
NM_000118.3:c.1272+16A>C , LRG_589t1:c.1272+16A>C	NP_000109.1:n.1272+16A>C
NM_001114753.2:c.1272+16A>C , LRG_589t2:c.1272+16A>C	NP_001108225.1:n.1272+16A>C
NM_001278138.1:c.726+16A>C	NP_001265067.1:n.726+16A>C
NR_136302.1:n.1568+1173T>G
NM_001114753.3:c.1272+16A>C MANE Select	NP_001108225.1:n.1272+16A>C
NM_001278138.2:c.726+16A>C	NP_001265067.1:n.726+16A>C