Canonical Allele Identifier: CA374977334

Gene: ENG

Linked Data

• gnomAD v4: 9-127818774-C-T
• MyVariant Identifiers: chr9:g.130581053C>T (hg19) ; chr9:g.127818774C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127818774C>T , CM000671.2:g.127818774C>T	GRCh38
NC_000009.11:g.130581053C>T , CM000671.1:g.130581053C>T	GRCh37
NC_000009.10:g.129620874C>T	NCBI36
NG_009551.1:g.40995G>A , LRG_589:g.40995G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.824G>A	ENSP00000479015.1:p.Ser275Asn
ENST00000373203.9:c.1370G>A MANE Select	ENSP00000362299.4:p.Ser457Asn
ENST00000344849.4:c.1370G>A	ENSP00000341917.3:p.Ser457Asn
ENST00000373203.8:c.1370G>A	ENSP00000362299.4:p.Ser457Asn
ENST00000480266.5:c.824G>A	ENSP00000479015.1:p.Ser275Asn
NM_000118.3:c.1370G>A , LRG_589t1:c.1370G>A	NP_000109.1:p.Ser457Asn
NM_001114753.2:c.1370G>A , LRG_589t2:c.1370G>A	NP_001108225.1:p.Ser457Asn
NM_001278138.1:c.824G>A	NP_001265067.1:p.Ser275Asn
NR_136302.1:n.1568+63C>T
NM_001114753.3:c.1370G>A MANE Select	NP_001108225.1:p.Ser457Asn
NM_001278138.2:c.824G>A	NP_001265067.1:p.Ser275Asn