Canonical Allele Identifier: CA6345503

Gene: HEPN1 HEPACAM

Linked Data

• ClinVar Variation Id: 303297
• ClinVar RCV Id: RCV000340406
• dbSNP Id: rs78859654
• ExAC: 11:124789828 A / T
• gnomAD v2: 11-124789828-A-T
• gnomAD v3: 11-124919932-A-T
• gnomAD v4: 11-124919932-A-T
• MyVariant Identifiers: chr11:g.124789828A>T (hg19) ; chr11:g.124919932A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.124919932A>T , CM000673.2:g.124919932A>T	GRCh38
NC_000011.9:g.124789828A>T , CM000673.1:g.124789828A>T	GRCh37
NC_000011.8:g.124295038A>T	NCBI36
NG_029603.1:g.21481T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000408930.7:c.182A>T (HEPN1) MANE Select	ENSP00000386143.4:p.His61Leu
ENST00000703807.1:c.*1206T>A (HEPACAM)	ENSP00000515485.1:n.*1206T>A
ENST00000298251.5:c.*1206T>A (HEPACAM) MANE Select	ENSP00000298251.4:n.*1206T>A
ENST00000298251.4:c.*1206T>A (HEPACAM)	ENSP00000298251.4:n.*1206T>A
ENST00000408930.6:c.182A>T (HEPN1)	ENSP00000386143.4:p.His61Leu
NM_001037558.2:c.182A>T (HEPN1)	NP_001032647.2:p.His61Leu
NM_152722.4:c.*1206T>A (HEPACAM)	NP_689935.2:n.*1206T>A
XM_005271449.1:c.*1206T>A (HEPACAM)	XP_005271506.1:n.*1206T>A
XM_006718786.1:c.*1206T>A (HEPACAM)	XP_006718849.1:n.*1206T>A
XM_011542669.1:c.*1206T>A (HEPACAM)	XP_011540971.1:n.*1206T>A
XM_005271449.2:c.*1206T>A (HEPACAM)	XP_005271506.1:n.*1206T>A
XM_017017361.1:c.*1206T>A (HEPACAM)	XP_016872850.1:n.*1206T>A
XR_001748429.2:n.325-23468A>T
NM_152722.5:c.*1206T>A (HEPACAM) MANE Select	NP_689935.2:n.*1206T>A
NR_170124.1:n.658A>T (HEPN1)