Canonical Allele Identifier: CA16612712

Gene: ENG

Linked Data

• ClinVar Variation Id: 407129
• ClinVar RCV Id: RCV000485643 ; RCV002230779 ; RCV002451097
• dbSNP Id: rs1060501417
• MyVariant Identifiers: chr9:g.130591961C>G (hg19) ; chr9:g.127829682C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127829682C>G , CM000671.2:g.127829682C>G	GRCh38
NC_000009.11:g.130591961C>G , CM000671.1:g.130591961C>G	GRCh37
NC_000009.10:g.129631782C>G	NCBI36
NG_009551.1:g.30087G>C , LRG_589:g.30087G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.-187+5G>C	ENSP00000479015.1:n.-187+5G>C
ENST00000373203.9:c.360+5G>C MANE Select	ENSP00000362299.4:n.360+5G>C
ENST00000344849.4:c.360+5G>C	ENSP00000341917.3:n.360+5G>C
ENST00000373203.8:c.360+5G>C	ENSP00000362299.4:n.360+5G>C
ENST00000462196.1:n.118+5G>C
ENST00000480266.5:c.-187+5G>C	ENSP00000479015.1:n.-187+5G>C
NM_000118.3:c.360+5G>C , LRG_589t1:c.360+5G>C	NP_000109.1:n.360+5G>C
NM_001114753.2:c.360+5G>C , LRG_589t2:c.360+5G>C	NP_001108225.1:n.360+5G>C
NM_001278138.1:c.-187+5G>C	NP_001265067.1:n.-187+5G>C
XR_001746952.2:n.83-2716C>G
NM_001114753.3:c.360+5G>C MANE Select	NP_001108225.1:n.360+5G>C
NM_001278138.2:c.-187+5G>C	NP_001265067.1:n.-187+5G>C