Canonical Allele Identifier: CA301964

Gene: HCN4

Linked Data

• ClinVar Variation Id: 190783
• ClinVar RCV Id: RCV000733914 ; RCV001062392 ; RCV004020035
• dbSNP Id: rs777023781
• ExAC: 15:73615907 C / T
• gnomAD v2: 15-73615907-C-T
• gnomAD v3: 15-73323566-C-T
• gnomAD v4: 15-73323566-C-T
• COSMIC: COSM964668
• MyVariant Identifiers: chr15:g.73615907C>T (hg19) ; chr15:g.73323566C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73323566C>T , CM000677.2:g.73323566C>T	GRCh38
NC_000015.9:g.73615907C>T , CM000677.1:g.73615907C>T	GRCh37
NC_000015.8:g.71402960C>T	NCBI36
NG_009063.1:g.50699G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261917.4:c.2527G>A MANE Select	ENSP00000261917.3:p.Ala843Thr
ENST00000261917.3:c.2527G>A	ENSP00000261917.3:p.Ala843Thr
NM_005477.2:c.2527G>A	NP_005468.1:p.Ala843Thr
XM_011521148.1:c.1309G>A	XP_011519450.1:p.Ala437Thr
XM_011521148.2:c.1309G>A	XP_011519450.1:p.Ala437Thr
NM_005477.3:c.2527G>A MANE Select	NP_005468.1:p.Ala843Thr