Canonical Allele Identifier: CA506638193

Gene: C19orf12

Linked Data

• ClinVar Variation Id: 1344261
• ClinVar RCV Id: RCV001848364 ; RCV002236027 ; RCV002473307
• dbSNP Id: rs398122409
• gnomAD v2: 19-30193878-GC-G
• gnomAD v3: 19-29702971-GC-G
• gnomAD v4: 19-29702971-GC-G
• COSMIC: COSM1180868
• MyVariant Identifiers: chr19:g.30193881del (hg19) ; chr19:g.30193879del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.29702978del , CM000681.2:g.29702978del	GRCh38
NC_000019.9:g.30193885del , CM000681.1:g.30193885del	GRCh37
NC_000019.8:g.34885725del	NCBI36
NG_031970.1:g.17818del
NG_031970.2:g.17818del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614091.5:c.166del
ENST00000623113.3:c.166del
ENST00000323670.14:c.166del
ENST00000323670.13:c.166del
ENST00000342680.5:c.*80del
ENST00000392275.1:n.557del
ENST00000392276.1:c.-27del
ENST00000392278.2:c.199del
ENST00000591243.1:c.166del
ENST00000592153.5:c.166del
ENST00000614091.4:c.166del
ENST00000623113.1:c.-27del
NM_001031726.3:c.199del
NM_001256046.1:c.166del
NM_001256047.1:c.166del
NM_001282929.1:c.-27del
NM_001282930.1:c.-27del
NM_001282931.1:c.-27del
NM_031448.4:c.166del
XM_024451734.1:c.328del
XM_024451735.1:c.166del
XM_024451736.1:c.166del
XM_024451737.1:c.166del
XM_024451738.1:c.166del
NM_001256046.2:c.166del
NM_001282930.2:c.-27del
NM_001282931.2:c.-27del
NM_031448.6:c.166del
NM_001031726.4:c.166del
NM_001256046.3:c.166del
NM_001256047.2:c.166del
NM_001282930.3:c.-27del
NM_001282931.3:c.-27del