Canonical Allele Identifier: CA374973822

Gene: ENG

Linked Data

• ClinVar Variation Id: 498114
• ClinVar RCV Id: RCV000591904 ; RCV001383868
• dbSNP Id: rs1554809106
• MyVariant Identifiers: chr9:g.130579483C>A (hg19) ; chr9:g.127817204C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127817204C>A , CM000671.2:g.127817204C>A	GRCh38
NC_000009.11:g.130579483C>A , CM000671.1:g.130579483C>A	GRCh37
NC_000009.10:g.129619304C>A	NCBI36
NG_009551.1:g.42565G>T , LRG_589:g.42565G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.1141-1G>T	ENSP00000479015.1:n.1141-1G>T
ENST00000373203.9:c.1687-1G>T MANE Select	ENSP00000362299.4:n.1687-1G>T
ENST00000344849.4:c.1687-1G>T	ENSP00000341917.3:n.1687-1G>T
ENST00000373203.8:c.1687-1G>T	ENSP00000362299.4:n.1687-1G>T
ENST00000480266.5:c.1141-1G>T	ENSP00000479015.1:n.1141-1G>T
NM_000118.3:c.1687-1G>T , LRG_589t1:c.1687-1G>T	NP_000109.1:n.1687-1G>T
NM_001114753.2:c.1687-1G>T , LRG_589t2:c.1687-1G>T	NP_001108225.1:n.1687-1G>T
NM_001278138.1:c.1141-1G>T	NP_001265067.1:n.1141-1G>T
NR_136302.1:n.1139C>A
NM_001114753.3:c.1687-1G>T MANE Select	NP_001108225.1:n.1687-1G>T
NM_001278138.2:c.1141-1G>T	NP_001265067.1:n.1141-1G>T