Canonical Allele Identifier: CA7648914
Gene: HCN4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2201458
ClinVar RCV Id: RCV002629670
dbSNP Id: rs754083717

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73323118C>A , CM000677.2:g.73323118C>A GRCh38
NC_000015.9:g.73615459C>A , CM000677.1:g.73615459C>A GRCh37
NC_000015.8:g.71402512C>A NCBI36
NG_009063.1:g.51147G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261917.4:c.2975G>T MANE Select ENSP00000261917.3:p.Ser992Ile
ENST00000261917.3:c.2975G>T ENSP00000261917.3:p.Ser992Ile
NM_005477.2:c.2975G>T NP_005468.1:p.Ser992Ile
XM_011521148.1:c.1757G>T XP_011519450.1:p.Ser586Ile
XM_011521148.2:c.1757G>T XP_011519450.1:p.Ser586Ile
NM_005477.3:c.2975G>T MANE Select NP_005468.1:p.Ser992Ile