Canonical Allele Identifier: CA2673782184
Gene: HCN1 HGNC NCBI

Linked Data

gnomAD v4: 5-45645141-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45645141C>T , CM000667.2:g.45645141C>T GRCh38
NC_000005.9:g.45645243C>T , CM000667.1:g.45645243C>T GRCh37
NC_000005.8:g.45681000C>T NCBI36
NG_042183.1:g.55978G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000303230.6:c.849+44G>A MANE Select ENSP00000307342.4:n.849+44G>A
ENST00000637256.1:n.77+44G>A
ENST00000673735.1:c.849+44G>A ENSP00000501107.1:n.849+44G>A
ENST00000303230.5:c.849+44G>A ENSP00000307342.4:n.849+44G>A
ENST00000634658.1:c.*5G>A ENSP00000489134.1:n.*5G>A
NM_021072.3:c.849+44G>A NP_066550.2:n.849+44G>A
NM_021072.4:c.849+44G>A MANE Select NP_066550.2:n.849+44G>A