Canonical Allele Identifier: CA7648912

Gene: HCN4

Linked Data

• ClinVar Variation Id: 538076
• ClinVar RCV Id: RCV000647232 ; RCV002289942
• dbSNP Id: rs199798661
• ExAC: 15:73615456 G / A
• gnomAD v2: 15-73615456-G-A
• gnomAD v3: 15-73323115-G-A
• gnomAD v4: 15-73323115-G-A
• MyVariant Identifiers: chr15:g.73615456G>A (hg19) ; chr15:g.73323115G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73323115G>A , CM000677.2:g.73323115G>A	GRCh38
NC_000015.9:g.73615456G>A , CM000677.1:g.73615456G>A	GRCh37
NC_000015.8:g.71402509G>A	NCBI36
NG_009063.1:g.51150C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261917.4:c.2978C>T MANE Select	ENSP00000261917.3:p.Thr993Met
ENST00000261917.3:c.2978C>T	ENSP00000261917.3:p.Thr993Met
NM_005477.2:c.2978C>T	NP_005468.1:p.Thr993Met
XM_011521148.1:c.1760C>T	XP_011519450.1:p.Thr587Met
XM_011521148.2:c.1760C>T	XP_011519450.1:p.Thr587Met
NM_005477.3:c.2978C>T MANE Select	NP_005468.1:p.Thr993Met