Canonical Allele Identifier: CA7649005

Gene: HCN4

Linked Data

• ClinVar Variation Id: 404119
• ClinVar RCV Id: RCV000456750 ; RCV000711885 ; RCV003168728
• dbSNP Id: rs747467877
• ExAC: 15:73615897 G / A
• gnomAD v2: 15-73615897-G-A
• gnomAD v3: 15-73323556-G-A
• gnomAD v4: 15-73323556-G-A
• COSMIC: COSM140070
• MyVariant Identifiers: chr15:g.73615897G>A (hg19) ; chr15:g.73323556G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73323556G>A , CM000677.2:g.73323556G>A	GRCh38
NC_000015.9:g.73615897G>A , CM000677.1:g.73615897G>A	GRCh37
NC_000015.8:g.71402950G>A	NCBI36
NG_009063.1:g.50709C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261917.4:c.2537C>T MANE Select	ENSP00000261917.3:p.Pro846Leu
ENST00000261917.3:c.2537C>T	ENSP00000261917.3:p.Pro846Leu
NM_005477.2:c.2537C>T	NP_005468.1:p.Pro846Leu
XM_011521148.1:c.1319C>T	XP_011519450.1:p.Pro440Leu
XM_011521148.2:c.1319C>T	XP_011519450.1:p.Pro440Leu
NM_005477.3:c.2537C>T MANE Select	NP_005468.1:p.Pro846Leu