Canonical Allele Identifier: CA16614725
Gene: HCN4 HGNC NCBI

Linked Data

ClinVar Variation Id: 404135
ClinVar RCV Id: RCV000456499
dbSNP Id: rs372243234

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73322525C>T , CM000677.2:g.73322525C>T GRCh38
NC_000015.9:g.73614866C>T , CM000677.1:g.73614866C>T GRCh37
NC_000015.8:g.71401919C>T NCBI36
NG_009063.1:g.51740G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261917.4:c.3568G>A MANE Select ENSP00000261917.3:p.Ala1190Thr
ENST00000261917.3:c.3568G>A ENSP00000261917.3:p.Ala1190Thr
NM_005477.2:c.3568G>A NP_005468.1:p.Ala1190Thr
XM_011521148.1:c.2350G>A XP_011519450.1:p.Ala784Thr
XM_011521148.2:c.2350G>A XP_011519450.1:p.Ala784Thr
NM_005477.3:c.3568G>A MANE Select NP_005468.1:p.Ala1190Thr