×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA393088191
Gene: HCN4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2189476
ClinVar RCV Id:
RCV002607387
dbSNP Id:
rs1595819830
gnomAD v3:
15-73323347-C-A
gnomAD v4:
15-73323347-C-A
MyVariant Identifiers:
chr15:g.73615688C>A (hg19)
chr15:g.73323347C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.73323347C>A , CM000677.2:g.73323347C>A
GRCh38
NC_000015.9:g.73615688C>A , CM000677.1:g.73615688C>A
GRCh37
NC_000015.8:g.71402741C>A
NCBI36
NG_009063.1:g.50918G>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000261917.4:c.2746G>T
MANE Select
ENSP00000261917.3:p.Gly916Cys
ENST00000261917.3:c.2746G>T
ENSP00000261917.3:p.Gly916Cys
NM_005477.2:c.2746G>T
NP_005468.1:p.Gly916Cys
XM_011521148.1:c.1528G>T
XP_011519450.1:p.Gly510Cys
XM_011521148.2:c.1528G>T
XP_011519450.1:p.Gly510Cys
NM_005477.3:c.2746G>T
MANE Select
NP_005468.1:p.Gly916Cys
Search 100 bp 5'
Search 100 bp 3'