Canonical Allele Identifier: CA349347750

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175689193C>A (hg19) ; chr2:g.174824465C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824465C>A , CM000664.2:g.174824465C>A	GRCh38
NC_000002.11:g.175689193C>A , CM000664.1:g.175689193C>A	GRCh37
NC_000002.10:g.175397439C>A	NCBI36
NG_012642.1:g.185978G>T
NG_012642.2:g.185978G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.306G>T	ENSP00000295497.7:p.Trp102Cys
ENST00000444394.7:c.306G>T	ENSP00000411911.2:p.Trp102Cys
ENST00000295497.12:c.306G>T	ENSP00000295497.7:p.Trp102Cys
ENST00000409089.7:c.6G>T	ENSP00000386322.3:p.Trp2Cys
ENST00000409900.9:c.681G>T MANE Select	ENSP00000386741.4:p.Trp227Cys
ENST00000413882.6:c.135G>T	ENSP00000410496.2:p.Trp45Cys
ENST00000425395.6:c.*128G>T	ENSP00000405270.2:n.*128G>T
ENST00000443238.6:c.159G>T	ENSP00000409798.2:p.Trp53Cys
ENST00000444394.6:c.306G>T	ENSP00000411911.2:p.Trp102Cys
ENST00000444573.2:c.525G>T	ENSP00000392603.2:p.Trp175Cys
ENST00000488080.6:n.324G>T
ENST00000650731.1:c.6G>T	ENSP00000499146.1:p.Trp2Cys
ENST00000650938.1:c.205G>T
ENST00000651246.1:c.273G>T	ENSP00000498484.1:p.Trp91Cys
ENST00000651373.1:c.195G>T	ENSP00000499174.1:p.Trp65Cys
ENST00000651501.1:c.*128G>T	ENSP00000498894.1:n.*128G>T
ENST00000651717.1:c.253-11983G>T	ENSP00000499124.1:n.253-11983G>T
ENST00000652036.1:c.306G>T	ENSP00000499139.1:p.Trp102Cys
ENST00000652154.1:n.579G>T
ENST00000295497.11:c.306G>T	ENSP00000295497.7:p.Trp102Cys
ENST00000409089.6:c.6G>T	ENSP00000386322.2:p.Trp2Cys
ENST00000409156.7:c.603G>T	ENSP00000386470.3:p.Trp201Cys
ENST00000409597.5:c.129G>T	ENSP00000386469.1:p.Trp43Cys
ENST00000409900.7:c.681G>T	ENSP00000386741.3:p.Trp227Cys
ENST00000413882.5:c.135G>T	ENSP00000410496.1:p.Trp45Cys
ENST00000425395.5:c.*232G>T	ENSP00000405270.1:n.*232G>T
ENST00000443238.5:c.159G>T	ENSP00000409798.1:p.Trp53Cys
ENST00000444394.5:c.6G>T	ENSP00000411911.1:p.Trp2Cys
ENST00000444573.1:c.306G>T	ENSP00000392603.1:p.Trp102Cys
ENST00000485882.1:n.140G>T
ENST00000488080.5:n.532G>T
NM_001025201.3:c.603G>T	NP_001020372.2:p.Trp201Cys
NM_001206602.1:c.306G>T	NP_001193531.1:p.Trp102Cys
NM_001822.5:c.681G>T	NP_001813.1:p.Trp227Cys
NR_038133.1:n.547G>T
NM_001025201.4:c.603G>T	NP_001020372.2:p.Trp201Cys
NM_001206602.2:c.306G>T	NP_001193531.1:p.Trp102Cys
NM_001371513.1:c.681G>T	NP_001358442.1:p.Trp227Cys
NM_001371514.1:c.732G>T	NP_001358443.1:p.Trp244Cys
NM_001822.7:c.681G>T MANE Select	NP_001813.1:p.Trp227Cys
NR_038133.2:n.549G>T