Canonical Allele Identifier: CA15725080

Gene: CIT

Linked Data

• dbSNP Id: rs10744743
• gnomAD v2: 12-120243065-C-G
• gnomAD v3: 12-119805261-C-G
• gnomAD v4: 12-119805261-C-G
• MyVariant Identifiers: chr12:g.120243065C>G (hg19) ; chr12:g.119805261C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.119805261C>G , CM000674.2:g.119805261C>G	GRCh38
NC_000012.11:g.120243065C>G , CM000674.1:g.120243065C>G	GRCh37
NC_000012.10:g.118727448C>G	NCBI36
NG_029792.1:g.77031G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000392521.7:c.1112-1872G>C MANE Select	ENSP00000376306.2:n.1112-1872G>C
ENST00000261833.11:c.1112-1872G>C	ENSP00000261833.7:n.1112-1872G>C
ENST00000392521.6:c.1112-1872G>C	ENSP00000376306.2:n.1112-1872G>C
ENST00000536325.1:c.267+44913G>C	ENSP00000443199.1:n.267+44913G>C
ENST00000612548.4:c.1112-1872G>C	ENSP00000482318.1:n.1112-1872G>C
NM_001206999.1:c.1112-1872G>C	NP_001193928.1:n.1112-1872G>C
NM_007174.2:c.1112-1872G>C	NP_009105.1:n.1112-1872G>C
XM_006719206.2:c.1112-1872G>C	XP_006719269.1:n.1112-1872G>C
XM_011537783.1:c.1112-1872G>C	XP_011536085.1:n.1112-1872G>C
XM_011537784.1:c.1112-1872G>C	XP_011536086.1:n.1112-1872G>C
XM_011537785.1:c.1112-1872G>C	XP_011536087.1:n.1112-1872G>C
XM_011537786.1:c.1112-1872G>C	XP_011536088.1:n.1112-1872G>C
XM_011537787.1:c.1112-1872G>C	XP_011536089.1:n.1112-1872G>C
XM_011537788.1:c.1112-1872G>C	XP_011536090.1:n.1112-1872G>C
XM_011537790.1:c.-44+17559G>C	XP_011536092.1:n.-44+17559G>C
XM_011537790.2:c.-44+17559G>C	XP_011536092.1:n.-44+17559G>C
XM_017018735.1:c.1112-1872G>C	XP_016874224.1:n.1112-1872G>C
XM_017018736.1:c.1112-1872G>C	XP_016874225.1:n.1112-1872G>C
XM_017018737.1:c.1112-1872G>C	XP_016874226.1:n.1112-1872G>C
NM_001206999.2:c.1112-1872G>C MANE Select	NP_001193928.1:n.1112-1872G>C
NM_007174.3:c.1112-1872G>C	NP_009105.1:n.1112-1872G>C