Canonical Allele Identifier: CA357140315

Gene: ENAM

Linked Data

• dbSNP Id: rs777996409
• gnomAD v3: 4-70642691-C-T
• gnomAD v4: 4-70642691-C-T
• MyVariant Identifiers: chr4:g.71508408C>T (hg19) ; chr4:g.70642691C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.70642691C>T , CM000666.2:g.70642691C>T	GRCh38
NC_000004.11:g.71508408C>T , CM000666.1:g.71508408C>T	GRCh37
NC_000004.10:g.71727272C>T	NCBI36
NG_013024.1:g.18948C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000396073.4:c.1265C>T MANE Select	ENSP00000379383.4:p.Pro422Leu
ENST00000396073.3:c.1265C>T	ENSP00000379383.3:p.Pro422Leu
ENST00000472903.5:n.99+4848C>T
NM_031889.2:c.1265C>T	NP_114095.2:p.Pro422Leu
XM_006714056.2:c.1265C>T	XP_006714119.1:p.Pro422Leu
XM_006714056.4:c.1265C>T	XP_006714119.1:p.Pro422Leu
NM_001368133.1:c.611C>T	NP_001355062.1:p.Pro204Leu
NM_031889.3:c.1265C>T MANE Select	NP_114095.2:p.Pro422Leu