Canonical Allele Identifier: CA117311
Gene: HCN4 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.73325378C>T
GRCh37 chr15:g.73617719C>T
Revel Score:
ENST00000261917 (MANE Select) 0.716
gnomAD v2:
15:73617719 C / T
gnomAD v3:
15:73325378 C / T
gnomAD v4:
chr15-73325378-C-T
Joint Max Group AF 0.0004615 (EAS)
Exomes Max Group AF 0.00050076 (EAS)
ClinVar RCV:
RCV000005483
RCV001851666
ClinVar Variation:
5175
dbSNP:
104894485
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73325378C>T , CM000677.2:g.73325378C>T GRCh38
NC_000015.9:g.73617719C>T , CM000677.1:g.73617719C>T GRCh37
NC_000015.8:g.71404772C>T NCBI36
NG_009063.1:g.48887G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261917.4:c.1657G>A MANE Select ENSP00000261917.3:p.Asp553Asn
ENST00000261917.3:c.1657G>A ENSP00000261917.3:p.Asp553Asn
NM_005477.2:c.1657G>A NP_005468.1:p.Asp553Asn
XM_011521148.1:c.439G>A XP_011519450.1:p.Asp147Asn
XM_011521148.2:c.439G>A XP_011519450.1:p.Asp147Asn
NM_005477.3:c.1657G>A MANE Select NP_005468.1:p.Asp553Asn
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