Canonical Allele Identifier: CA272663334

Gene: HCN4

Linked Data

• ClinVar Variation Id: 1046643
• ClinVar RCV Id: RCV001351225 ; RCV002456528
• dbSNP Id: rs981056449
• gnomAD v2: 15-73615063-C-T
• gnomAD v3: 15-73322722-C-T
• gnomAD v4: 15-73322722-C-T
• MyVariant Identifiers: chr15:g.73615063C>T (hg19) ; chr15:g.73322722C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73322722C>T , CM000677.2:g.73322722C>T	GRCh38
NC_000015.9:g.73615063C>T , CM000677.1:g.73615063C>T	GRCh37
NC_000015.8:g.71402116C>T	NCBI36
NG_009063.1:g.51543G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261917.4:c.3371G>A MANE Select	ENSP00000261917.3:p.Gly1124Asp
ENST00000261917.3:c.3371G>A	ENSP00000261917.3:p.Gly1124Asp
NM_005477.2:c.3371G>A	NP_005468.1:p.Gly1124Asp
XM_011521148.1:c.2153G>A	XP_011519450.1:p.Gly718Asp
XM_011521148.2:c.2153G>A	XP_011519450.1:p.Gly718Asp
NM_005477.3:c.3371G>A MANE Select	NP_005468.1:p.Gly1124Asp