Canonical Allele Identifier: CA247657

Gene: HCN4

Linked Data

• ClinVar Variation Id: 198822
• ClinVar RCV Id: RCV000180276 ; RCV000552390 ; RCV002426863 ; RCV003967444
• dbSNP Id: rs768157473
• ExAC: 15:73615911 C / T
• gnomAD v2: 15-73615911-C-T
• gnomAD v3: 15-73323570-C-T
• gnomAD v4: 15-73323570-C-T
• MyVariant Identifiers: chr15:g.73615911C>T (hg19) ; chr15:g.73323570C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73323570C>T , CM000677.2:g.73323570C>T	GRCh38
NC_000015.9:g.73615911C>T , CM000677.1:g.73615911C>T	GRCh37
NC_000015.8:g.71402964C>T	NCBI36
NG_009063.1:g.50695G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261917.4:c.2523G>A MANE Select	ENSP00000261917.3:p.Ser841=
ENST00000261917.3:c.2523G>A	ENSP00000261917.3:p.Ser841=
NM_005477.2:c.2523G>A	NP_005468.1:p.Ser841=
XM_011521148.1:c.1305G>A	XP_011519450.1:p.Ser435=
XM_011521148.2:c.1305G>A	XP_011519450.1:p.Ser435=
NM_005477.3:c.2523G>A MANE Select	NP_005468.1:p.Ser841=