Canonical Allele Identifier: CA359707685
Gene: HCN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45645495A>G , CM000667.2:g.45645495A>G GRCh38
NC_000005.9:g.45645597A>G , CM000667.1:g.45645597A>G GRCh37
NC_000005.8:g.45681354A>G NCBI36
NG_042183.1:g.55624T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000303230.6:c.539T>C MANE Select ENSP00000307342.4:p.Val180Ala
ENST00000673735.1:c.539T>C ENSP00000501107.1:p.Val180Ala
ENST00000303230.5:c.539T>C ENSP00000307342.4:p.Val180Ala
ENST00000634658.1:c.539T>C ENSP00000489134.1:p.Val180Ala
NM_021072.3:c.539T>C NP_066550.2:p.Val180Ala
NM_021072.4:c.539T>C MANE Select NP_066550.2:p.Val180Ala