Canonical Allele Identifier: CA1178960

Gene: CD1C CD1B

Linked Data

• ClinVar Variation Id: 2454756
• ClinVar RCV Id: RCV004252091
• dbSNP Id: rs114356245
• ExAC: 1:158263062 T / C
• gnomAD v2: 1-158263062-T-C
• gnomAD v3: 1-158293272-T-C
• gnomAD v4: 1-158293272-T-C
• MyVariant Identifiers: chr1:g.158263062T>C (hg19) ; chr1:g.158293272T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158293272T>C , CM000663.2:g.158293272T>C	GRCh38
NC_000001.10:g.158263062T>C , CM000663.1:g.158263062T>C	GRCh37
NC_000001.9:g.156529686T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368170.8:c.950T>C (CD1C) MANE Select	ENSP00000357152.3:p.Ile317Thr
ENST00000368170.7:c.950T>C (CD1C)	ENSP00000357152.3:p.Ile317Thr
ENST00000443761.1:c.693-183T>C (CD1C)
NM_001765.2:c.950T>C (CD1C)	NP_001756.2:p.Ile317Thr
XM_005245579.3:c.890-183T>C (CD1C)	XP_005245636.1:n.890-183T>C
XM_005245579.5:c.890-183T>C (CD1C)	XP_005245636.1:n.890-183T>C
XM_017002785.2:c.608-5233A>G (CD1B)	XP_016858274.1:n.608-5233A>G
NM_001765.3:c.950T>C (CD1C) MANE Select	NP_001756.2:p.Ile317Thr