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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:
CA384638555
Gene: WNT1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1941015055
gnomAD v3:
12-48981556-G-C
gnomAD v4:
12-48981556-G-C
MyVariant Identifiers:
chr12:g.49375339G>C (hg19)
chr12:g.48981556G>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.48981556G>C , CM000674.2:g.48981556G>C
GRCh38
NC_000012.11:g.49375339G>C , CM000674.1:g.49375339G>C
GRCh37
NC_000012.10:g.47661606G>C
NCBI36
NG_033141.1:g.8104G>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000293549.4:c.1029G>C
MANE Select
ENSP00000293549.3:p.Glu343Asp
ENST00000293549.3:c.1029G>C
ENSP00000293549.3:p.Glu343Asp
ENST00000613114.4:c.996G>C
ENSP00000481240.1:p.Glu332Asp
NM_005430.3:c.1029G>C
NP_005421.1:p.Glu343Asp
NM_005430.4:c.1029G>C
MANE Select
NP_005421.1:p.Glu343Asp
Search 100 bp 5'
Search 100 bp 3'