Canonical Allele Identifier: CA7648808

Gene: HCN4

Linked Data

• ClinVar Variation Id: 382170
• ClinVar RCV Id: RCV000437157 ; RCV000476840 ; RCV003168647 ; RCV001702651
• dbSNP Id: rs375911378
• ExAC: 15:73614903 C / A
• gnomAD v2: 15-73614903-C-A
• gnomAD v3: 15-73322562-C-A
• gnomAD v4: 15-73322562-C-A
• MyVariant Identifiers: chr15:g.73614903C>A (hg19) ; chr15:g.73322562C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73322562C>A , CM000677.2:g.73322562C>A	GRCh38
NC_000015.9:g.73614903C>A , CM000677.1:g.73614903C>A	GRCh37
NC_000015.8:g.71401956C>A	NCBI36
NG_009063.1:g.51703G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261917.4:c.3531G>T MANE Select	ENSP00000261917.3:p.Gly1177=
ENST00000261917.3:c.3531G>T	ENSP00000261917.3:p.Gly1177=
NM_005477.2:c.3531G>T	NP_005468.1:p.Gly1177=
XM_011521148.1:c.2313G>T	XP_011519450.1:p.Gly771=
XM_011521148.2:c.2313G>T	XP_011519450.1:p.Gly771=
NM_005477.3:c.3531G>T MANE Select	NP_005468.1:p.Gly1177=