Canonical Allele Identifier: CA7649500

Gene: HCN4

Linked Data

• ClinVar Variation Id: 240164
• ClinVar RCV Id: RCV000232608
• dbSNP Id: rs759329385
• ExAC: 15:73660484 G / A
• gnomAD v2: 15-73660484-G-A
• gnomAD v3: 15-73368143-G-A
• gnomAD v4: 15-73368143-G-A
• MyVariant Identifiers: chr15:g.73660484G>A (hg19) ; chr15:g.73368143G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73368143G>A , CM000677.2:g.73368143G>A	GRCh38
NC_000015.9:g.73660484G>A , CM000677.1:g.73660484G>A	GRCh37
NC_000015.8:g.71447537G>A	NCBI36
NG_009063.1:g.6122C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261917.4:c.128C>T MANE Select	ENSP00000261917.3:p.Pro43Leu
ENST00000261917.3:c.128C>T	ENSP00000261917.3:p.Pro43Leu
NM_005477.2:c.128C>T	NP_005468.1:p.Pro43Leu
NM_005477.3:c.128C>T MANE Select	NP_005468.1:p.Pro43Leu