Canonical Allele Identifier: CA359707154

Gene: HCN1

Linked Data

• COSMIC: COSM1437706
• MyVariant Identifiers: chr5:g.45645367C>G (hg19) ; chr5:g.45645265C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.45645265C>G , CM000667.2:g.45645265C>G	GRCh38
NC_000005.9:g.45645367C>G , CM000667.1:g.45645367C>G	GRCh37
NC_000005.8:g.45681124C>G	NCBI36
NG_042183.1:g.55854G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303230.6:c.769G>C MANE Select	ENSP00000307342.4:p.Val257Leu
ENST00000673735.1:c.769G>C	ENSP00000501107.1:p.Val257Leu
ENST00000303230.5:c.769G>C	ENSP00000307342.4:p.Val257Leu
ENST00000634658.1:c.769G>C	ENSP00000489134.1:p.Val257Leu
NM_021072.3:c.769G>C	NP_066550.2:p.Val257Leu
NM_021072.4:c.769G>C MANE Select	NP_066550.2:p.Val257Leu