Canonical Allele Identifier: CA2952083

Gene: ENAM

Linked Data

• ClinVar Variation Id: 775985
• ClinVar RCV Id: RCV000956220 ; RCV001153250
• dbSNP Id: rs74511578
• ExAC: 4:71508308 G / A
• gnomAD v2: 4-71508308-G-A
• gnomAD v3: 4-70642591-G-A
• gnomAD v4: 4-70642591-G-A
• MyVariant Identifiers: chr4:g.71508308G>A (hg19) ; chr4:g.70642591G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.70642591G>A , CM000666.2:g.70642591G>A	GRCh38
NC_000004.11:g.71508308G>A , CM000666.1:g.71508308G>A	GRCh37
NC_000004.10:g.71727172G>A	NCBI36
NG_013024.1:g.18848G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000396073.4:c.1165G>A MANE Select	ENSP00000379383.4:p.Gly389Ser
ENST00000396073.3:c.1165G>A	ENSP00000379383.3:p.Gly389Ser
ENST00000472903.5:n.99+4748G>A
NM_031889.2:c.1165G>A	NP_114095.2:p.Gly389Ser
XM_006714056.2:c.1165G>A	XP_006714119.1:p.Gly389Ser
XM_006714056.4:c.1165G>A	XP_006714119.1:p.Gly389Ser
NM_001368133.1:c.511G>A	NP_001355062.1:p.Gly171Ser
NM_031889.3:c.1165G>A MANE Select	NP_114095.2:p.Gly389Ser