Canonical Allele Identifier: CA7648968

Gene: HCN4

Linked Data

• ClinVar Variation Id: 404120
• ClinVar RCV Id: RCV000464894 ; RCV000480340 ; RCV000619580 ; RCV001118937
• dbSNP Id: rs201742383
• ExAC: 15:73615733 C / T
• gnomAD v2: 15-73615733-C-T
• gnomAD v3: 15-73323392-C-T
• gnomAD v4: 15-73323392-C-T
• MyVariant Identifiers: chr15:g.73615733C>T (hg19) ; chr15:g.73323392C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73323392C>T , CM000677.2:g.73323392C>T	GRCh38
NC_000015.9:g.73615733C>T , CM000677.1:g.73615733C>T	GRCh37
NC_000015.8:g.71402786C>T	NCBI36
NG_009063.1:g.50873G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261917.4:c.2701G>A MANE Select	ENSP00000261917.3:p.Ala901Thr
ENST00000261917.3:c.2701G>A	ENSP00000261917.3:p.Ala901Thr
NM_005477.2:c.2701G>A	NP_005468.1:p.Ala901Thr
XM_011521148.1:c.1483G>A	XP_011519450.1:p.Ala495Thr
XM_011521148.2:c.1483G>A	XP_011519450.1:p.Ala495Thr
NM_005477.3:c.2701G>A MANE Select	NP_005468.1:p.Ala901Thr