Canonical Allele Identifier: CA7649464

Gene: HCN4

Linked Data

• ClinVar Variation Id: 240172
• ClinVar RCV Id: RCV000274839 ; RCV000619534 ; RCV000711895 ; RCV001081299
• dbSNP Id: rs571671463
• ExAC: 15:73660066 G / C
• gnomAD v2: 15-73660066-G-C
• gnomAD v3: 15-73367725-G-C
• gnomAD v4: 15-73367725-G-C
• COSMIC: COSM4578470
• MyVariant Identifiers: chr15:g.73660066G>C (hg19) ; chr15:g.73367725G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73367725G>C , CM000677.2:g.73367725G>C	GRCh38
NC_000015.9:g.73660066G>C , CM000677.1:g.73660066G>C	GRCh37
NC_000015.8:g.71447119G>C	NCBI36
NG_009063.1:g.6540C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261917.4:c.546C>G MANE Select	ENSP00000261917.3:p.Pro182=
ENST00000261917.3:c.546C>G	ENSP00000261917.3:p.Pro182=
NM_005477.2:c.546C>G	NP_005468.1:p.Pro182=
NM_005477.3:c.546C>G MANE Select	NP_005468.1:p.Pro182=