Canonical Allele Identifier: CA359707729

Gene: HCN1

Linked Data

• gnomAD v4: 5-45645513-G-A
• MyVariant Identifiers: chr5:g.45645615G>A (hg19) ; chr5:g.45645513G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.45645513G>A , CM000667.2:g.45645513G>A	GRCh38
NC_000005.9:g.45645615G>A , CM000667.1:g.45645615G>A	GRCh37
NC_000005.8:g.45681372G>A	NCBI36
NG_042183.1:g.55606C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303230.6:c.521C>T MANE Select	ENSP00000307342.4:p.Pro174Leu
ENST00000673735.1:c.521C>T	ENSP00000501107.1:p.Pro174Leu
ENST00000303230.5:c.521C>T	ENSP00000307342.4:p.Pro174Leu
ENST00000634658.1:c.521C>T	ENSP00000489134.1:p.Pro174Leu
NM_021072.3:c.521C>T	NP_066550.2:p.Pro174Leu
NM_021072.4:c.521C>T MANE Select	NP_066550.2:p.Pro174Leu