Canonical Allele Identifier: CA7649012
Gene: HCN4 HGNC NCBI

Linked Data

ClinVar Variation Id: 388739
ClinVar RCV Id: RCV000429376 RCV001410972 RCV003168681
dbSNP Id: rs766293595
ExAC: 15:73615926 C / T
gnomAD v2: 15-73615926-C-T
gnomAD v3: 15-73323585-C-T
gnomAD v4: 15-73323585-C-T
COSMIC: COSM1629676
MyVariant Identifiers: chr15:g.73615926C>T (hg19) chr15:g.73323585C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73323585C>T , CM000677.2:g.73323585C>T GRCh38
NC_000015.9:g.73615926C>T , CM000677.1:g.73615926C>T GRCh37
NC_000015.8:g.71402979C>T NCBI36
NG_009063.1:g.50680G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261917.4:c.2508G>A MANE Select ENSP00000261917.3:p.Ala836=
ENST00000261917.3:c.2508G>A ENSP00000261917.3:p.Ala836=
NM_005477.2:c.2508G>A NP_005468.1:p.Ala836=
XM_011521148.1:c.1290G>A XP_011519450.1:p.Ala430=
XM_011521148.2:c.1290G>A XP_011519450.1:p.Ala430=
NM_005477.3:c.2508G>A MANE Select NP_005468.1:p.Ala836=
Search 100 bp 5'
Search 100 bp 3'