Canonical Allele Identifier: CA393086252
Gene: HCN4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2565005
ClinVar RCV Id: RCV003297361
dbSNP Id: rs2042871862
gnomAD v4: 15-73323010-G-C
MyVariant Identifiers: chr15:g.73615351G>C (hg19) chr15:g.73323010G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73323010G>C , CM000677.2:g.73323010G>C GRCh38
NC_000015.9:g.73615351G>C , CM000677.1:g.73615351G>C GRCh37
NC_000015.8:g.71402404G>C NCBI36
NG_009063.1:g.51255C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261917.4:c.3083C>G MANE Select ENSP00000261917.3:p.Pro1028Arg
ENST00000261917.3:c.3083C>G ENSP00000261917.3:p.Pro1028Arg
NM_005477.2:c.3083C>G NP_005468.1:p.Pro1028Arg
XM_011521148.1:c.1865C>G XP_011519450.1:p.Pro622Arg
XM_011521148.2:c.1865C>G XP_011519450.1:p.Pro622Arg
NM_005477.3:c.3083C>G MANE Select NP_005468.1:p.Pro1028Arg
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