Canonical Allele Identifier: CA272663354
Gene: HCN4 HGNC NCBI

Linked Data

ClinVar Variation Id: 470666
ClinVar RCV Id: RCV000537495
dbSNP Id: rs867816182
gnomAD v2: 15-73615080-G-A
gnomAD v4: 15-73322739-G-A
MyVariant Identifiers: chr15:g.73615080G>A (hg19) chr15:g.73322739G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73322739G>A , CM000677.2:g.73322739G>A GRCh38
NC_000015.9:g.73615080G>A , CM000677.1:g.73615080G>A GRCh37
NC_000015.8:g.71402133G>A NCBI36
NG_009063.1:g.51526C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261917.4:c.3354C>T MANE Select ENSP00000261917.3:p.Leu1118=
ENST00000261917.3:c.3354C>T ENSP00000261917.3:p.Leu1118=
NM_005477.2:c.3354C>T NP_005468.1:p.Leu1118=
XM_011521148.1:c.2136C>T XP_011519450.1:p.Leu712=
XM_011521148.2:c.2136C>T XP_011519450.1:p.Leu712=
NM_005477.3:c.3354C>T MANE Select NP_005468.1:p.Leu1118=
Search 100 bp 5'
Search 100 bp 3'