Canonical Allele Identifier: CA860212361
Gene: ENG HGNC NCBI

Linked Data

dbSNP Id: rs1185929561
gnomAD v4: 9-127854758-A-G
MyVariant Identifiers: chr9:g.130617037A>G (hg19) chr9:g.127854758A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127854758A>G , CM000671.2:g.127854758A>G GRCh38
NC_000009.11:g.130617037A>G , CM000671.1:g.130617037A>G GRCh37
NC_000009.10:g.129656858A>G NCBI36
NG_009551.1:g.5011T>C , LRG_589:g.5011T>C

Transcript Alleles

HGVS Amino-acid change
NM_000118.3:c.-403T>C , LRG_589t1:c.-403T>C NP_000109.1:n.-403T>C
NM_001114753.2:c.-403T>C , LRG_589t2:c.-403T>C NP_001108225.1:n.-403T>C
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