Canonical Allele Identifier: CA404775472

Gene: IL12RB1

Linked Data

• gnomAD v4: 19-18060054-T-C
• COSMIC: COSM992982 ; COSM4871478
• MyVariant Identifiers: chr19:g.18170864T>C (hg19) ; chr19:g.18060054T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18060054T>C , CM000681.2:g.18060054T>C	GRCh38
NC_000019.9:g.18170864T>C , CM000681.1:g.18170864T>C	GRCh37
NC_000019.8:g.18031864T>C	NCBI36
NG_007366.2:g.43896A>G , LRG_72:g.43896A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593993.7:c.1823A>G MANE Select	ENSP00000472165.2:p.Gln608Arg
ENST00000593993.6:c.1823A>G	ENSP00000472165.2:p.Gln608Arg
ENST00000600835.6:c.1823A>G	ENSP00000470788.1:p.Gln608Arg
NM_001290023.1:c.1823A>G	NP_001276952.1:p.Gln608Arg
NM_001290024.1:c.1943A>G	NP_001276953.1:p.Gln648Arg
NM_005535.2:c.1823A>G	NP_005526.1:p.Gln608Arg
XM_006722741.2:c.1943A>G	XP_006722804.2:p.Gln648Arg
XM_011527966.1:c.1976A>G	XP_011526268.1:p.Gln659Arg
XM_011527967.1:c.1964A>G	XP_011526269.1:p.Gln655Arg
XM_011527968.1:c.1955A>G	XP_011526270.1:p.Gln652Arg
XM_011527969.1:c.1943A>G	XP_011526271.1:p.Gln648Arg
XM_011527970.1:c.1976A>G	XP_011526272.1:p.Gln659Arg
XM_011527971.1:c.1976A>G	XP_011526273.1:p.Gln659Arg
XM_011527972.1:c.1976A>G	XP_011526274.1:p.Gln659Arg
XM_011527973.1:c.1856A>G	XP_011526275.1:p.Gln619Arg
XM_011527974.1:c.1844A>G	XP_011526276.1:p.Gln615Arg
XM_011527975.1:c.1943A>G	XP_011526277.1:p.Gln648Arg
XM_006722741.3:c.1943A>G	XP_006722804.2:p.Gln648Arg
XM_011527966.2:c.1976A>G	XP_011526268.1:p.Gln659Arg
XM_011527967.2:c.1964A>G	XP_011526269.1:p.Gln655Arg
XM_011527968.3:c.1955A>G	XP_011526270.1:p.Gln652Arg
XM_011527969.2:c.1943A>G	XP_011526271.1:p.Gln648Arg
XM_011527970.2:c.1976A>G	XP_011526272.1:p.Gln659Arg
XM_011527971.3:c.1976A>G	XP_011526273.1:p.Gln659Arg
XM_011527972.3:c.1976A>G	XP_011526274.1:p.Gln659Arg
XM_011527973.2:c.1856A>G	XP_011526275.1:p.Gln619Arg
XM_011527974.2:c.1844A>G	XP_011526276.1:p.Gln615Arg
XM_011527975.2:c.1943A>G	XP_011526277.1:p.Gln648Arg
XM_017026762.1:c.1241A>G	XP_016882251.1:p.Gln414Arg
NM_001290023.2:c.1823A>G	NP_001276952.1:p.Gln608Arg
NM_005535.3:c.1823A>G MANE Select	NP_005526.1:p.Gln608Arg