Canonical Allele Identifier: CA163178

Gene: HCN4

Linked Data

• ClinVar Variation Id: 137542
• ClinVar RCV Id: RCV000125353 ; RCV000232306 ; RCV000577973 ; RCV000578029 ; RCV000620859 ; RCV000711887 ; RCV000852708
• dbSNP Id: rs148398509
• ExAC: 15:73615786 G / C
• gnomAD v2: 15-73615786-G-C
• gnomAD v3: 15-73323445-G-C
• gnomAD v4: 15-73323445-G-C
• MyVariant Identifiers: chr15:g.73615786G>C (hg19) ; chr15:g.73323445G>C (hg38)
• PubMed: PMID:23861362 ; PMID:25145518 ; PMID:27173043 ; PMID:28104484

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73323445G>C , CM000677.2:g.73323445G>C	GRCh38
NC_000015.9:g.73615786G>C , CM000677.1:g.73615786G>C	GRCh37
NC_000015.8:g.71402839G>C	NCBI36
NG_009063.1:g.50820C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261917.4:c.2648C>G MANE Select	ENSP00000261917.3:p.Pro883Arg
ENST00000261917.3:c.2648C>G	ENSP00000261917.3:p.Pro883Arg
NM_005477.2:c.2648C>G	NP_005468.1:p.Pro883Arg
XM_011521148.1:c.1430C>G	XP_011519450.1:p.Pro477Arg
XM_011521148.2:c.1430C>G	XP_011519450.1:p.Pro477Arg
NM_005477.3:c.2648C>G MANE Select	NP_005468.1:p.Pro883Arg