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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:
CA7649038
Gene: HCN4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
963923
ClinVar RCV Id:
RCV001238039
RCV002451576
dbSNP Id:
rs756650627
ExAC:
15:73616060 C / A
gnomAD v2:
15-73616060-C-A
gnomAD v3:
15-73323719-C-A
gnomAD v4:
15-73323719-C-A
MyVariant Identifiers:
chr15:g.73616060C>A (hg19)
chr15:g.73323719C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.73323719C>A , CM000677.2:g.73323719C>A
GRCh38
NC_000015.9:g.73616060C>A , CM000677.1:g.73616060C>A
GRCh37
NC_000015.8:g.71403113C>A
NCBI36
NG_009063.1:g.50546G>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000261917.4:c.2374G>T
MANE Select
ENSP00000261917.3:p.Ala792Ser
ENST00000261917.3:c.2374G>T
ENSP00000261917.3:p.Ala792Ser
NM_005477.2:c.2374G>T
NP_005468.1:p.Ala792Ser
XM_011521148.1:c.1156G>T
XP_011519450.1:p.Ala386Ser
XM_011521148.2:c.1156G>T
XP_011519450.1:p.Ala386Ser
NM_005477.3:c.2374G>T
MANE Select
NP_005468.1:p.Ala792Ser
Search 100 bp 5'
Search 100 bp 3'