×
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:
CA2898128
Gene: CHRNA9
HGNC
NCBI
Linked Data
dbSNP Id:
rs779928318
ExAC:
4:40356151 TATG / T
gnomAD v2:
4-40356151-TATG-T
MyVariant Identifiers:
chr4:g.40356152_40356154del (hg19)
chr4:g.40354135_40354137del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.40354138_40354140del , CM000666.2:g.40354138_40354140del
GRCh38
NC_000004.11:g.40356155_40356157del , CM000666.1:g.40356155_40356157del
GRCh37
NC_000004.10:g.40050912_40050914del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000310169.3:c.1058_1060del
MANE Select
ENSP00000312663.2:p.Asp353del
ENST00000310169.2:c.1058_1060del
ENSP00000312663.2:p.Asp353del
NM_017581.3:c.1058_1060del
NP_060051.2:p.Asp353del
NM_017581.4:c.1058_1060del
MANE Select
NP_060051.2:p.Asp353del
Search 100 bp 5'
Search 100 bp 3'