Canonical Allele Identifier: CA393097787

Gene: HCN4

Linked Data

• ClinVar Variation Id: 2156137
• ClinVar RCV Id: RCV003084063
• dbSNP Id: rs1339319886
• gnomAD v2: 15-73660100-G-T
• gnomAD v4: 15-73367759-G-T
• MyVariant Identifiers: chr15:g.73660100G>T (hg19) ; chr15:g.73367759G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73367759G>T , CM000677.2:g.73367759G>T	GRCh38
NC_000015.9:g.73660100G>T , CM000677.1:g.73660100G>T	GRCh37
NC_000015.8:g.71447153G>T	NCBI36
NG_009063.1:g.6506C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261917.4:c.512C>A MANE Select	ENSP00000261917.3:p.Pro171Gln
ENST00000261917.3:c.512C>A	ENSP00000261917.3:p.Pro171Gln
NM_005477.2:c.512C>A	NP_005468.1:p.Pro171Gln
NM_005477.3:c.512C>A MANE Select	NP_005468.1:p.Pro171Gln