Canonical Allele Identifier: CA374983508
Gene: ENG HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.127825711G>C
GRCh37 chr9:g.130587990G>C
Revel Score:
ENST00000373203 (MANE Select) 0.041
ENST00000344849 0.041
ENST00000545345 0.041
ENST00000546301 0.041
ClinVar RCV:
RCV002234424
ClinVar Variation:
528069
dbSNP:
1554810373
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127825711G>C , CM000671.2:g.127825711G>C GRCh38
NC_000009.11:g.130587990G>C , CM000671.1:g.130587990G>C GRCh37
NC_000009.10:g.129627811G>C NCBI36
NG_009551.1:g.34058C>G , LRG_589:g.34058C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.127C>G ENSP00000479015.1:p.Pro43Ala
ENST00000373203.9:c.673C>G MANE Select ENSP00000362299.4:p.Pro225Ala
ENST00000344849.4:c.673C>G ENSP00000341917.3:p.Pro225Ala
ENST00000373203.8:c.673C>G ENSP00000362299.4:p.Pro225Ala
ENST00000480266.5:c.127C>G ENSP00000479015.1:p.Pro43Ala
NM_000118.3:c.673C>G , LRG_589t1:c.673C>G NP_000109.1:p.Pro225Ala
NM_001114753.2:c.673C>G , LRG_589t2:c.673C>G NP_001108225.1:p.Pro225Ala
NM_001278138.1:c.127C>G NP_001265067.1:p.Pro43Ala
XR_001746952.2:n.82+253G>C
NM_001114753.3:c.673C>G MANE Select NP_001108225.1:p.Pro225Ala
NM_001278138.2:c.127C>G NP_001265067.1:p.Pro43Ala
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