Canonical Allele Identifier: CA7649292
Gene: HCN4 HGNC NCBI

Linked Data

ClinVar Variation Id: 519446
ClinVar RCV Id: RCV000617678 RCV000861883 RCV003392455
dbSNP Id: rs148875639
ExAC: 15:73622049 C / T
gnomAD v2: 15-73622049-C-T
gnomAD v3: 15-73329708-C-T
gnomAD v4: 15-73329708-C-T
COSMIC: COSM4771721
MyVariant Identifiers: chr15:g.73622049C>T (hg19) chr15:g.73329708C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73329708C>T , CM000677.2:g.73329708C>T GRCh38
NC_000015.9:g.73622049C>T , CM000677.1:g.73622049C>T GRCh37
NC_000015.8:g.71409102C>T NCBI36
NG_009063.1:g.44557G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261917.4:c.1455G>A MANE Select ENSP00000261917.3:p.Ala485=
ENST00000261917.3:c.1455G>A ENSP00000261917.3:p.Ala485=
NM_005477.2:c.1455G>A NP_005468.1:p.Ala485=
XM_011521148.1:c.237G>A XP_011519450.1:p.Ala79=
XM_011521148.2:c.237G>A XP_011519450.1:p.Ala79=
NM_005477.3:c.1455G>A MANE Select NP_005468.1:p.Ala485=
Search 100 bp 5'
Search 100 bp 3'