Canonical Allele Identifier: CA374983463

Gene: ENG

Linked Data

• dbSNP Id: rs1289232116
• gnomAD v2: 9-130587634-G-C
• gnomAD v4: 9-127825355-G-C
• MyVariant Identifiers: chr9:g.130587634G>C (hg19) ; chr9:g.127825355G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127825355G>C , CM000671.2:g.127825355G>C	GRCh38
NC_000009.11:g.130587634G>C , CM000671.1:g.130587634G>C	GRCh37
NC_000009.10:g.129627455G>C	NCBI36
NG_009551.1:g.34414C>G , LRG_589:g.34414C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.146C>G	ENSP00000479015.1:p.Pro49Arg
ENST00000373203.9:c.692C>G MANE Select	ENSP00000362299.4:p.Pro231Arg
ENST00000344849.4:c.692C>G	ENSP00000341917.3:p.Pro231Arg
ENST00000373203.8:c.692C>G	ENSP00000362299.4:p.Pro231Arg
ENST00000480266.5:c.146C>G	ENSP00000479015.1:p.Pro49Arg
NM_000118.3:c.692C>G , LRG_589t1:c.692C>G	NP_000109.1:p.Pro231Arg
NM_001114753.2:c.692C>G , LRG_589t2:c.692C>G	NP_001108225.1:p.Pro231Arg
NM_001278138.1:c.146C>G	NP_001265067.1:p.Pro49Arg
NM_001114753.3:c.692C>G MANE Select	NP_001108225.1:p.Pro231Arg
NM_001278138.2:c.146C>G	NP_001265067.1:p.Pro49Arg