×
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:
CA7649051
Gene: HCN4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1063391
ClinVar RCV Id:
RCV001373224
dbSNP Id:
rs763021264
ExAC:
15:73616125 G / A
gnomAD v2:
15-73616125-G-A
gnomAD v3:
15-73323784-G-A
gnomAD v4:
15-73323784-G-A
MyVariant Identifiers:
chr15:g.73616125G>A (hg19)
chr15:g.73323784G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.73323784G>A , CM000677.2:g.73323784G>A
GRCh38
NC_000015.9:g.73616125G>A , CM000677.1:g.73616125G>A
GRCh37
NC_000015.8:g.71403178G>A
NCBI36
NG_009063.1:g.50481C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000261917.4:c.2309C>T
MANE Select
ENSP00000261917.3:p.Thr770Met
ENST00000261917.3:c.2309C>T
ENSP00000261917.3:p.Thr770Met
NM_005477.2:c.2309C>T
NP_005468.1:p.Thr770Met
XM_011521148.1:c.1091C>T
XP_011519450.1:p.Thr364Met
XM_011521148.2:c.1091C>T
XP_011519450.1:p.Thr364Met
NM_005477.3:c.2309C>T
MANE Select
NP_005468.1:p.Thr770Met
Search 100 bp 5'
Search 100 bp 3'