Canonical Allele Identifier: CA8316368

Gene: ENO3

Linked Data

• ClinVar Variation Id: 2063275
• ClinVar RCV Id: RCV002948333
• dbSNP Id: rs373847361
• ExAC: 17:4858564 C / T
• gnomAD v2: 17-4858564-C-T
• gnomAD v3: 17-4955269-C-T
• gnomAD v4: 17-4955269-C-T
• COSMIC: COSM4151664
• MyVariant Identifiers: chr17:g.4858564C>T (hg19) ; chr17:g.4955269C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4955269C>T , CM000679.2:g.4955269C>T	GRCh38
NC_000017.10:g.4858564C>T , CM000679.1:g.4858564C>T	GRCh37
NC_000017.9:g.4799310C>T	NCBI36
NG_012063.2:g.14179C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519602.6:c.639C>T MANE Select	ENSP00000430055.2:p.Phe213=
ENST00000323997.10:c.639C>T	ENSP00000324105.6:p.Phe213=
ENST00000518175.1:c.639C>T	ENSP00000431087.1:p.Phe213=
ENST00000519584.5:c.510C>T	ENSP00000430636.1:p.Phe170=
ENST00000519602.5:c.639C>T	ENSP00000430055.1:p.Phe213=
ENST00000521659.5:c.*585C>T	ENSP00000430554.1:n.*585C>T
NM_001193503.1:c.510C>T	NP_001180432.1:p.Phe170=
NM_001976.4:c.639C>T	NP_001967.3:p.Phe213=
NM_053013.3:c.639C>T	NP_443739.3:p.Phe213=
XM_005256521.2:c.666C>T	XP_005256578.1:p.Phe222=
XM_011523729.1:c.639C>T	XP_011522031.1:p.Phe213=
XM_017024346.2:c.639C>T	XP_016879835.1:p.Phe213=
NM_001193503.2:c.510C>T	NP_001180432.1:p.Phe170=
NM_001374523.1:c.639C>T	NP_001361452.1:p.Phe213=
NM_001374524.1:c.666C>T	NP_001361453.1:p.Phe222=
NM_001976.5:c.639C>T	NP_001967.3:p.Phe213=
NM_053013.4:c.639C>T MANE Select	NP_443739.3:p.Phe213=