Canonical Allele Identifier: CA247661

Gene: HCN4

Linked Data

• ClinVar Variation Id: 198824
• ClinVar RCV Id: RCV000180278 ; RCV001852243 ; RCV002453641
• dbSNP Id: rs794727919
• gnomAD v3: 15-73322730-C-G
• gnomAD v4: 15-73322730-C-G
• MyVariant Identifiers: chr15:g.73615071C>G (hg19) ; chr15:g.73322730C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73322730C>G , CM000677.2:g.73322730C>G	GRCh38
NC_000015.9:g.73615071C>G , CM000677.1:g.73615071C>G	GRCh37
NC_000015.8:g.71402124C>G	NCBI36
NG_009063.1:g.51535G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261917.4:c.3363G>C MANE Select	ENSP00000261917.3:p.Arg1121Ser
ENST00000261917.3:c.3363G>C	ENSP00000261917.3:p.Arg1121Ser
NM_005477.2:c.3363G>C	NP_005468.1:p.Arg1121Ser
XM_011521148.1:c.2145G>C	XP_011519450.1:p.Arg715Ser
XM_011521148.2:c.2145G>C	XP_011519450.1:p.Arg715Ser
NM_005477.3:c.3363G>C MANE Select	NP_005468.1:p.Arg1121Ser