Canonical Allele Identifier: CA7648883

Gene: HCN4

Linked Data

• ClinVar Variation Id: 2045234
• ClinVar RCV Id: RCV002918032
• dbSNP Id: rs777117707
• ExAC: 15:73615331 G / C
• gnomAD v2: 15-73615331-G-C
• gnomAD v3: 15-73322990-G-C
• gnomAD v4: 15-73322990-G-C
• MyVariant Identifiers: chr15:g.73615331G>C (hg19) ; chr15:g.73322990G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73322990G>C , CM000677.2:g.73322990G>C	GRCh38
NC_000015.9:g.73615331G>C , CM000677.1:g.73615331G>C	GRCh37
NC_000015.8:g.71402384G>C	NCBI36
NG_009063.1:g.51275C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261917.4:c.3103C>G MANE Select	ENSP00000261917.3:p.Pro1035Ala
ENST00000261917.3:c.3103C>G	ENSP00000261917.3:p.Pro1035Ala
NM_005477.2:c.3103C>G	NP_005468.1:p.Pro1035Ala
XM_011521148.1:c.1885C>G	XP_011519450.1:p.Pro629Ala
XM_011521148.2:c.1885C>G	XP_011519450.1:p.Pro629Ala
NM_005477.3:c.3103C>G MANE Select	NP_005468.1:p.Pro1035Ala