Canonical Allele Identifier: CA359704810

Gene: HCN1

Linked Data

• MyVariant Identifiers: chr5:g.45461986A>G (hg19) ; chr5:g.45461884A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.45461884A>G , CM000667.2:g.45461884A>G	GRCh38
NC_000005.9:g.45461986A>G , CM000667.1:g.45461986A>G	GRCh37
NC_000005.8:g.45497743A>G	NCBI36
NG_042183.1:g.239235T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303230.6:c.973T>C MANE Select	ENSP00000307342.4:p.Phe325Leu
ENST00000637305.1:n.136T>C
ENST00000673735.1:c.973T>C	ENSP00000501107.1:p.Phe325Leu
ENST00000303230.5:c.973T>C	ENSP00000307342.4:p.Phe325Leu
NM_021072.3:c.973T>C	NP_066550.2:p.Phe325Leu
NM_021072.4:c.973T>C MANE Select	NP_066550.2:p.Phe325Leu