Canonical Allele Identifier: CA3538874

Gene: IL12B

Linked Data

• dbSNP Id: rs776253449
• ExAC: 5:158750288 C / T
• gnomAD v2: 5-158750288-C-T
• gnomAD v3: 5-159323280-C-T
• gnomAD v4: 5-159323280-C-T
• COSMIC: COSM4927041 ; COSM4927042
• MyVariant Identifiers: chr5:g.158750288C>T (hg19) ; chr5:g.159323280C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.159323280C>T , CM000667.2:g.159323280C>T	GRCh38
NC_000005.9:g.158750288C>T , CM000667.1:g.158750288C>T	GRCh37
NC_000005.8:g.158682866C>T	NCBI36
NG_009618.1:g.12194G>A , LRG_71:g.12194G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696750.1:c.-148-2760G>A	ENSP00000512849.1:n.-148-2760G>A
ENST00000696751.1:c.138G>A	ENSP00000512850.1:p.Val46=
ENST00000231228.3:c.138G>A MANE Select	ENSP00000231228.2:p.Val46=
ENST00000231228.2:c.138G>A	ENSP00000231228.2:p.Val46=
NM_002187.2:c.138G>A , LRG_71t1:c.138G>A	NP_002178.2:p.Val46=
XR_001742945.1:n.148-2254C>T
NM_002187.3:c.138G>A MANE Select	NP_002178.2:p.Val46=