Canonical Allele Identifier: CA393086121

Gene: HCN4

Linked Data

• ClinVar Variation Id: 807287
• ClinVar RCV Id: RCV001053613 ; RCV002320209 ; RCV002505511
• dbSNP Id: rs1443227484
• gnomAD v2: 15-73615286-C-T
• gnomAD v3: 15-73322945-C-T
• gnomAD v4: 15-73322945-C-T
• MyVariant Identifiers: chr15:g.73615286C>T (hg19) ; chr15:g.73322945C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73322945C>T , CM000677.2:g.73322945C>T	GRCh38
NC_000015.9:g.73615286C>T , CM000677.1:g.73615286C>T	GRCh37
NC_000015.8:g.71402339C>T	NCBI36
NG_009063.1:g.51320G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261917.4:c.3148G>A MANE Select	ENSP00000261917.3:p.Gly1050Arg
ENST00000261917.3:c.3148G>A	ENSP00000261917.3:p.Gly1050Arg
NM_005477.2:c.3148G>A	NP_005468.1:p.Gly1050Arg
XM_011521148.1:c.1930G>A	XP_011519450.1:p.Gly644Arg
XM_011521148.2:c.1930G>A	XP_011519450.1:p.Gly644Arg
NM_005477.3:c.3148G>A MANE Select	NP_005468.1:p.Gly1050Arg