Canonical Allele Identifier: CA7649001

Gene: HCN4

Linked Data

• ClinVar Variation Id: 289273
• ClinVar RCV Id: RCV000326913 ; RCV000702797 ; RCV002480042
• dbSNP Id: rs779241036
• ExAC: 15:73615879 G / A
• gnomAD v2: 15-73615879-G-A
• gnomAD v3: 15-73323538-G-A
• gnomAD v4: 15-73323538-G-A
• COSMIC: COSM1749302
• MyVariant Identifiers: chr15:g.73615879G>A (hg19) ; chr15:g.73323538G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73323538G>A , CM000677.2:g.73323538G>A	GRCh38
NC_000015.9:g.73615879G>A , CM000677.1:g.73615879G>A	GRCh37
NC_000015.8:g.71402932G>A	NCBI36
NG_009063.1:g.50727C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261917.4:c.2555C>T MANE Select	ENSP00000261917.3:p.Pro852Leu
ENST00000261917.3:c.2555C>T	ENSP00000261917.3:p.Pro852Leu
NM_005477.2:c.2555C>T	NP_005468.1:p.Pro852Leu
XM_011521148.1:c.1337C>T	XP_011519450.1:p.Pro446Leu
XM_011521148.2:c.1337C>T	XP_011519450.1:p.Pro446Leu
NM_005477.3:c.2555C>T MANE Select	NP_005468.1:p.Pro852Leu