Canonical Allele Identifier: CA3538872

Gene: IL12B

Linked Data

• ClinVar Variation Id: 1375530
• ClinVar RCV Id: RCV001883371
• dbSNP Id: rs563294089
• ExAC: 5:158750287 C / A
• gnomAD v2: 5-158750287-C-A
• gnomAD v3: 5-159323279-C-A
• gnomAD v4: 5-159323279-C-A
• MyVariant Identifiers: chr5:g.158750287C>A (hg19) ; chr5:g.159323279C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.159323279C>A , CM000667.2:g.159323279C>A	GRCh38
NC_000005.9:g.158750287C>A , CM000667.1:g.158750287C>A	GRCh37
NC_000005.8:g.158682865C>A	NCBI36
NG_009618.1:g.12195G>T , LRG_71:g.12195G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696750.1:c.-148-2759G>T	ENSP00000512849.1:n.-148-2759G>T
ENST00000696751.1:c.139G>T	ENSP00000512850.1:p.Val47Phe
ENST00000231228.3:c.139G>T MANE Select	ENSP00000231228.2:p.Val47Phe
ENST00000231228.2:c.139G>T	ENSP00000231228.2:p.Val47Phe
NM_002187.2:c.139G>T , LRG_71t1:c.139G>T	NP_002178.2:p.Val47Phe
XR_001742945.1:n.148-2255C>A
NM_002187.3:c.139G>T MANE Select	NP_002178.2:p.Val47Phe