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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:
CA7648946
Gene: HCN4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
538102
ClinVar RCV Id:
RCV000647269
dbSNP Id:
rs777648103
ExAC:
15:73615604 C / T
gnomAD v2:
15-73615604-C-T
gnomAD v3:
15-73323263-C-T
gnomAD v4:
15-73323263-C-T
MyVariant Identifiers:
chr15:g.73615604C>T (hg19)
chr15:g.73323263C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.73323263C>T , CM000677.2:g.73323263C>T
GRCh38
NC_000015.9:g.73615604C>T , CM000677.1:g.73615604C>T
GRCh37
NC_000015.8:g.71402657C>T
NCBI36
NG_009063.1:g.51002G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000261917.4:c.2830G>A
MANE Select
ENSP00000261917.3:p.Ala944Thr
ENST00000261917.3:c.2830G>A
ENSP00000261917.3:p.Ala944Thr
NM_005477.2:c.2830G>A
NP_005468.1:p.Ala944Thr
XM_011521148.1:c.1612G>A
XP_011519450.1:p.Ala538Thr
XM_011521148.2:c.1612G>A
XP_011519450.1:p.Ala538Thr
NM_005477.3:c.2830G>A
MANE Select
NP_005468.1:p.Ala944Thr
Search 100 bp 5'
Search 100 bp 3'