Canonical Allele Identifier: CA467474809

Gene: ENG

Linked Data

• gnomAD v4: 9-127816100-A-G
• MyVariant Identifiers: chr9:g.130578379A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127816100A>G , CM000671.2:g.127816100A>G	GRCh38
NC_000009.11:g.130578379A>G , CM000671.1:g.130578379A>G	GRCh37
NC_000009.10:g.129618200A>G	NCBI36
NG_009551.1:g.43669T>C , LRG_589:g.43669T>C
NG_023245.1:g.18226A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.1196-47T>C	ENSP00000479015.1:n.1196-47T>C
ENST00000373203.9:c.1742-47T>C MANE Select	ENSP00000362299.4:n.1742-47T>C
ENST00000344849.4:c.1742-47T>C	ENSP00000341917.3:n.1742-47T>C
ENST00000373203.8:c.1742-47T>C	ENSP00000362299.4:n.1742-47T>C
ENST00000480266.5:c.1196-47T>C	ENSP00000479015.1:n.1196-47T>C
NM_000118.3:c.1742-47T>C , LRG_589t1:c.1742-47T>C	NP_000109.1:n.1742-47T>C
NM_001114753.2:c.1742-47T>C , LRG_589t2:c.1742-47T>C	NP_001108225.1:n.1742-47T>C
NM_001278138.1:c.1196-47T>C	NP_001265067.1:n.1196-47T>C
XM_011519273.1:c.-479A>G	XP_011517575.1:n.-479A>G
NR_136302.1:n.35A>G
NM_001114753.3:c.1742-47T>C MANE Select	NP_001108225.1:n.1742-47T>C
NM_001278138.2:c.1196-47T>C	NP_001265067.1:n.1196-47T>C