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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:
CA119189
Gene: TWIST1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
7983
ClinVar RCV Id:
RCV001390391
dbSNP Id:
rs104894055
gnomAD v4:
7-19117240-G-A
MyVariant Identifiers:
chr7:g.19156863G>A (hg19)
chr7:g.19117240G>A (hg38)
PubMed:
PMID:8968762
PMID:11474656
PMID:11977182
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.19117240G>A , CM000669.2:g.19117240G>A
GRCh38
NC_000007.13:g.19156863G>A , CM000669.1:g.19156863G>A
GRCh37
NC_000007.12:g.19123388G>A
NCBI36
NG_008114.1:g.5433C>T
NG_008114.2:g.5433C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000242261.6:c.82C>T
MANE Select
ENSP00000242261.5:p.Gln28Ter
ENST00000242261.5:c.82C>T
ENSP00000242261.5:p.Gln28Ter
NM_000474.3:c.82C>T
NP_000465.1:p.Gln28Ter
XM_011515496.1:c.82C>T
XP_011513798.1:p.Gln28Ter
NR_149001.1:n.433C>T
NM_000474.4:c.82C>T
MANE Select
NP_000465.1:p.Gln28Ter
NR_149001.2:n.397C>T
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