Canonical Allele Identifier: CA7649076

Gene: HCN4

Linked Data

• ClinVar Variation Id: 412790
• ClinVar RCV Id: RCV000474429 ; RCV000617845 ; RCV001704562
• dbSNP Id: rs146732972
• ExAC: 15:73616224 T / C
• gnomAD v2: 15-73616224-T-C
• gnomAD v3: 15-73323883-T-C
• gnomAD v4: 15-73323883-T-C
• MyVariant Identifiers: chr15:g.73616224T>C (hg19) ; chr15:g.73323883T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73323883T>C , CM000677.2:g.73323883T>C	GRCh38
NC_000015.9:g.73616224T>C , CM000677.1:g.73616224T>C	GRCh37
NC_000015.8:g.71403277T>C	NCBI36
NG_009063.1:g.50382A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261917.4:c.2210A>G MANE Select	ENSP00000261917.3:p.Gln737Arg
ENST00000261917.3:c.2210A>G	ENSP00000261917.3:p.Gln737Arg
NM_005477.2:c.2210A>G	NP_005468.1:p.Gln737Arg
XM_011521148.1:c.992A>G	XP_011519450.1:p.Gln331Arg
XM_011521148.2:c.992A>G	XP_011519450.1:p.Gln331Arg
NM_005477.3:c.2210A>G MANE Select	NP_005468.1:p.Gln737Arg