Canonical Allele Identifier: CA374970782

Gene: ENG

Linked Data

• dbSNP Id: rs796980915
• gnomAD v2: 9-130578072-C-G
• gnomAD v4: 9-127815793-C-G
• MyVariant Identifiers: chr9:g.130578072C>G (hg19) ; chr9:g.127815793C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815793C>G , CM000671.2:g.127815793C>G	GRCh38
NC_000009.11:g.130578072C>G , CM000671.1:g.130578072C>G	GRCh37
NC_000009.10:g.129617893C>G	NCBI36
NG_009551.1:g.43976G>C , LRG_589:g.43976G>C
NG_023245.1:g.17919C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.1320G>C	ENSP00000479015.1:p.Lys440Asn
ENST00000373203.9:c.1866G>C MANE Select	ENSP00000362299.4:p.Lys622Asn
ENST00000344849.4:c.*124G>C	ENSP00000341917.3:n.*124G>C
ENST00000373203.8:c.1866G>C	ENSP00000362299.4:p.Lys622Asn
ENST00000480266.5:c.1320G>C	ENSP00000479015.1:p.Lys440Asn
NM_000118.3:c.*124G>C , LRG_589t1:c.*124G>C	NP_000109.1:n.*124G>C
NM_001114753.2:c.1866G>C , LRG_589t2:c.1866G>C	NP_001108225.1:p.Lys622Asn
NM_001278138.1:c.1320G>C	NP_001265067.1:p.Lys440Asn
NM_001114753.3:c.1866G>C MANE Select	NP_001108225.1:p.Lys622Asn
NM_001278138.2:c.1320G>C	NP_001265067.1:p.Lys440Asn