Canonical Allele Identifier: CA559415966
Gene: HCN1 HGNC NCBI

Linked Data

dbSNP Id: rs1268121917
gnomAD v2: 5-45461946-AC-A
gnomAD v4: 5-45461844-AC-A
MyVariant Identifiers: chr5:g.45461947del (hg19) chr5:g.45461845del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45461845del , CM000667.2:g.45461845del GRCh38
NC_000005.9:g.45461947del , CM000667.1:g.45461947del GRCh37
NC_000005.8:g.45497704del NCBI36
NG_042183.1:g.239274del

Transcript Alleles

HGVS Amino-acid change
ENST00000303230.6:c.1011+1del MANE Select ENSP00000307342.4:n.1011+1del
ENST00000637305.1:n.174+1del
ENST00000673735.1:c.1011+1del ENSP00000501107.1:n.1011+1del
ENST00000303230.5:c.1011+1del ENSP00000307342.4:n.1011+1del
NM_021072.3:c.1011+1del NP_066550.2:n.1011+1del
NM_021072.4:c.1011+1del MANE Select NP_066550.2:n.1011+1del
Search 100 bp 5'
Search 100 bp 3'