Canonical Allele Identifier: CA467227066
Gene: ENG HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.130581016C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127818737C>G , CM000671.2:g.127818737C>G GRCh38
NC_000009.11:g.130581016C>G , CM000671.1:g.130581016C>G GRCh37
NC_000009.10:g.129620837C>G NCBI36
NG_009551.1:g.41032G>C , LRG_589:g.41032G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000480266.6:c.861G>C ENSP00000479015.1:p.Pro287=
ENST00000373203.9:c.1407G>C MANE Select ENSP00000362299.4:p.Pro469=
ENST00000344849.4:c.1407G>C ENSP00000341917.3:p.Pro469=
ENST00000373203.8:c.1407G>C ENSP00000362299.4:p.Pro469=
ENST00000480266.5:c.861G>C ENSP00000479015.1:p.Pro287=
NM_000118.3:c.1407G>C , LRG_589t1:c.1407G>C NP_000109.1:p.Pro469=
NM_001114753.2:c.1407G>C , LRG_589t2:c.1407G>C NP_001108225.1:p.Pro469=
NM_001278138.1:c.861G>C NP_001265067.1:p.Pro287=
NR_136302.1:n.1568+26C>G
NM_001114753.3:c.1407G>C MANE Select NP_001108225.1:p.Pro469=
NM_001278138.2:c.861G>C NP_001265067.1:p.Pro287=