Canonical Allele Identifier: CA2499217867
Gene: HCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1053542
ClinVar RCV Id: RCV001361903
dbSNP Id: rs2111627345

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45461997_45462008del , CM000667.2:g.45461997_45462008del GRCh38
NC_000005.9:g.45462099_45462110del , CM000667.1:g.45462099_45462110del GRCh37
NC_000005.8:g.45497856_45497867del NCBI36
NG_042183.1:g.239113_239124del

Transcript Alleles

HGVS Amino-acid Change
ENST00000303230.6:c.851_862del
ENST00000637305.1:n.14_25del
ENST00000673735.1:c.851_862del
ENST00000303230.5:c.851_862del
NM_021072.3:c.851_862del
NM_021072.4:c.851_862del