Canonical Allele Identifier: CA393086087
Gene: HCN4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2613744
ClinVar RCV Id: RCV004352435

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73322927G>C , CM000677.2:g.73322927G>C GRCh38
NC_000015.9:g.73615268G>C , CM000677.1:g.73615268G>C GRCh37
NC_000015.8:g.71402321G>C NCBI36
NG_009063.1:g.51338C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261917.4:c.3166C>G MANE Select ENSP00000261917.3:p.Pro1056Ala
ENST00000261917.3:c.3166C>G ENSP00000261917.3:p.Pro1056Ala
NM_005477.2:c.3166C>G NP_005468.1:p.Pro1056Ala
XM_011521148.1:c.1948C>G XP_011519450.1:p.Pro650Ala
XM_011521148.2:c.1948C>G XP_011519450.1:p.Pro650Ala
NM_005477.3:c.3166C>G MANE Select NP_005468.1:p.Pro1056Ala