Canonical Allele Identifier: CA3538764

Gene: IL12B

Linked Data

• ClinVar Variation Id: 751664
• ClinVar RCV Id: RCV001440448
• dbSNP Id: rs142400793
• ExAC: 5:158747456 C / T
• gnomAD v2: 5-158747456-C-T
• gnomAD v3: 5-159320448-C-T
• gnomAD v4: 5-159320448-C-T
• MyVariant Identifiers: chr5:g.158747456C>T (hg19) ; chr5:g.159320448C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.159320448C>T , CM000667.2:g.159320448C>T	GRCh38
NC_000005.9:g.158747456C>T , CM000667.1:g.158747456C>T	GRCh37
NC_000005.8:g.158680034C>T	NCBI36
NG_009618.1:g.15026G>A , LRG_71:g.15026G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696750.1:c.-76G>A	ENSP00000512849.1:n.-76G>A
ENST00000696751.1:c.*50G>A	ENSP00000512850.1:n.*50G>A
ENST00000231228.3:c.555G>A MANE Select	ENSP00000231228.2:p.Lys185=
ENST00000231228.2:c.555G>A	ENSP00000231228.2:p.Lys185=
NM_002187.2:c.555G>A , LRG_71t1:c.555G>A	NP_002178.2:p.Lys185=
NM_002187.3:c.555G>A MANE Select	NP_002178.2:p.Lys185=