Canonical Allele Identifier: CA199745

Gene: HCN4

Linked Data

• ClinVar Variation Id: 190776
• ClinVar RCV Id: RCV000170935 ; RCV000204870 ; RCV000619411 ; RCV001079992
• dbSNP Id: rs186728422
• ExAC: 15:73615401 A / C
• gnomAD v2: 15-73615401-A-C
• gnomAD v3: 15-73323060-A-C
• gnomAD v4: 15-73323060-A-C
• MyVariant Identifiers: chr15:g.73615401A>C (hg19) ; chr15:g.73323060A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73323060A>C , CM000677.2:g.73323060A>C	GRCh38
NC_000015.9:g.73615401A>C , CM000677.1:g.73615401A>C	GRCh37
NC_000015.8:g.71402454A>C	NCBI36
NG_009063.1:g.51205T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261917.4:c.3033T>G MANE Select	ENSP00000261917.3:p.Ser1011=
ENST00000261917.3:c.3033T>G	ENSP00000261917.3:p.Ser1011=
NM_005477.2:c.3033T>G	NP_005468.1:p.Ser1011=
XM_011521148.1:c.1815T>G	XP_011519450.1:p.Ser605=
XM_011521148.2:c.1815T>G	XP_011519450.1:p.Ser605=
NM_005477.3:c.3033T>G MANE Select	NP_005468.1:p.Ser1011=