Canonical Allele Identifier: CA2673781152
Gene: HCN1 HGNC NCBI

Linked Data

gnomAD v4: 5-45461747-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45461747C>T , CM000667.2:g.45461747C>T GRCh38
NC_000005.9:g.45461849C>T , CM000667.1:g.45461849C>T GRCh37
NC_000005.8:g.45497606C>T NCBI36
NG_042183.1:g.239372G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000303230.6:c.1011+99G>A MANE Select ENSP00000307342.4:n.1011+99G>A
ENST00000637305.1:n.174+99G>A
ENST00000673735.1:c.1011+99G>A ENSP00000501107.1:n.1011+99G>A
ENST00000303230.5:c.1011+99G>A ENSP00000307342.4:n.1011+99G>A
NM_021072.3:c.1011+99G>A NP_066550.2:n.1011+99G>A
NM_021072.4:c.1011+99G>A MANE Select NP_066550.2:n.1011+99G>A