Canonical Allele Identifier: CA7648933
Gene: HCN4 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.73323192G>A
GRCh37 chr15:g.73615533G>A
gnomAD v2:
15:73615533 G / A
gnomAD v3:
15:73323192 G / A
gnomAD v4:
chr15-73323192-G-A
Joint Max Group AF 0.00048397 (AFR)
Genomes Max Group AF 0.00045853 (AFR)
Exomes Max Group AF 0.00039272 (AFR)
ClinVar RCV:
RCV000619751
RCV001455931
ClinVar Variation:
470661
dbSNP:
570068696
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73323192G>A , CM000677.2:g.73323192G>A GRCh38
NC_000015.9:g.73615533G>A , CM000677.1:g.73615533G>A GRCh37
NC_000015.8:g.71402586G>A NCBI36
NG_009063.1:g.51073C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261917.4:c.2901C>T MANE Select ENSP00000261917.3:p.Ser967=
ENST00000261917.3:c.2901C>T ENSP00000261917.3:p.Ser967=
NM_005477.2:c.2901C>T NP_005468.1:p.Ser967=
XM_011521148.1:c.1683C>T XP_011519450.1:p.Ser561=
XM_011521148.2:c.1683C>T XP_011519450.1:p.Ser561=
NM_005477.3:c.2901C>T MANE Select NP_005468.1:p.Ser967=
Search 100 bp 5'
Search 100 bp 3'