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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA7648872
Gene: HCN4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1058436
ClinVar RCV Id:
RCV001367577
dbSNP Id:
rs759356193
ExAC:
15:73615232 G / A
gnomAD v2:
15-73615232-G-A
gnomAD v3:
15-73322891-G-A
gnomAD v4:
15-73322891-G-A
COSMIC:
COSM3690521
MyVariant Identifiers:
chr15:g.73615232G>A (hg19)
chr15:g.73322891G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.73322891G>A , CM000677.2:g.73322891G>A
GRCh38
NC_000015.9:g.73615232G>A , CM000677.1:g.73615232G>A
GRCh37
NC_000015.8:g.71402285G>A
NCBI36
NG_009063.1:g.51374C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000261917.4:c.3202C>T
MANE Select
ENSP00000261917.3:p.Arg1068Cys
ENST00000261917.3:c.3202C>T
ENSP00000261917.3:p.Arg1068Cys
NM_005477.2:c.3202C>T
NP_005468.1:p.Arg1068Cys
XM_011521148.1:c.1984C>T
XP_011519450.1:p.Arg662Cys
XM_011521148.2:c.1984C>T
XP_011519450.1:p.Arg662Cys
NM_005477.3:c.3202C>T
MANE Select
NP_005468.1:p.Arg1068Cys
Search 100 bp 5'
Search 100 bp 3'