Canonical Allele Identifier: CA357140305

Gene: ENAM

Linked Data

• dbSNP Id: rs1488046136
• gnomAD v3: 4-70642690-C-T
• gnomAD v4: 4-70642690-C-T
• MyVariant Identifiers: chr4:g.71508407C>T (hg19) ; chr4:g.70642690C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.70642690C>T , CM000666.2:g.70642690C>T	GRCh38
NC_000004.11:g.71508407C>T , CM000666.1:g.71508407C>T	GRCh37
NC_000004.10:g.71727271C>T	NCBI36
NG_013024.1:g.18947C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000396073.4:c.1264C>T MANE Select	ENSP00000379383.4:p.Pro422Ser
ENST00000396073.3:c.1264C>T	ENSP00000379383.3:p.Pro422Ser
ENST00000472903.5:n.99+4847C>T
NM_031889.2:c.1264C>T	NP_114095.2:p.Pro422Ser
XM_006714056.2:c.1264C>T	XP_006714119.1:p.Pro422Ser
XM_006714056.4:c.1264C>T	XP_006714119.1:p.Pro422Ser
NM_001368133.1:c.610C>T	NP_001355062.1:p.Pro204Ser
NM_031889.3:c.1264C>T MANE Select	NP_114095.2:p.Pro422Ser