Canonical Allele Identifier: CA7648866

Gene: HCN4

Linked Data

• ClinVar Variation Id: 1062581
• ClinVar RCV Id: RCV001372316 ; RCV003132482
• dbSNP Id: rs776487863
• ExAC: 15:73615216 GGGGGTGTGCCCCGGCGCTGGGGGACCT / G
• gnomAD v2: 15-73615216-GGGGGTGTGCCCCGGCGCTGGGGGACCT-G
• gnomAD v3: 15-73322875-GGGGGTGTGCCCCGGCGCTGGGGGACCT-G
• gnomAD v4: 15-73322875-GGGGGTGTGCCCCGGCGCTGGGGGACCT-G
• MyVariant Identifiers: chr15:g.73615217_73615243del (hg19) ; chr15:g.73322876_73322902del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73322882_73322908del , CM000677.2:g.73322882_73322908del	GRCh38
NC_000015.9:g.73615223_73615249del , CM000677.1:g.73615223_73615249del	GRCh37
NC_000015.8:g.71402276_71402302del	NCBI36
NG_009063.1:g.51363_51389del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261917.4:c.3191_3217del MANE Select	ENSP00000261917.3:p.Gln1064_Pro1072del
ENST00000261917.3:c.3191_3217del	ENSP00000261917.3:p.Gln1064_Pro1072del
NM_005477.2:c.3191_3217del	NP_005468.1:p.Gln1064_Pro1072del
XM_011521148.1:c.1973_1999del	XP_011519450.1:p.Gln658_Pro666del
XM_011521148.2:c.1973_1999del	XP_011519450.1:p.Gln658_Pro666del
NM_005477.3:c.3191_3217del MANE Select	NP_005468.1:p.Gln1064_Pro1072del