Canonical Allele Identifier: CA117313
Gene: HCN4 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.73329725C>G
GRCh37 chr15:g.73622066C>G
Revel Score:
ENST00000261917 (MANE Select) 0.961
ClinVar RCV:
RCV000005484
ClinVar Variation:
5176
dbSNP:
121908411
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73329725C>G , CM000677.2:g.73329725C>G GRCh38
NC_000015.9:g.73622066C>G , CM000677.1:g.73622066C>G GRCh37
NC_000015.8:g.71409119C>G NCBI36
NG_009063.1:g.44540G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261917.4:c.1438G>C MANE Select ENSP00000261917.3:p.Gly480Arg
ENST00000261917.3:c.1438G>C ENSP00000261917.3:p.Gly480Arg
NM_005477.2:c.1438G>C NP_005468.1:p.Gly480Arg
XM_011521148.1:c.220G>C XP_011519450.1:p.Gly74Arg
XM_011521148.2:c.220G>C XP_011519450.1:p.Gly74Arg
NM_005477.3:c.1438G>C MANE Select NP_005468.1:p.Gly480Arg
Search 100 bp 5'
Search 100 bp 3'