Canonical Allele Identifier: CA349347757

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175689194C>A (hg19) ; chr2:g.174824466C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824466C>A , CM000664.2:g.174824466C>A	GRCh38
NC_000002.11:g.175689194C>A , CM000664.1:g.175689194C>A	GRCh37
NC_000002.10:g.175397440C>A	NCBI36
NG_012642.1:g.185977G>T
NG_012642.2:g.185977G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000295497.13:c.305G>T	ENSP00000295497.7:p.Trp102Leu
ENST00000444394.7:c.305G>T	ENSP00000411911.2:p.Trp102Leu
ENST00000295497.12:c.305G>T	ENSP00000295497.7:p.Trp102Leu
ENST00000409089.7:c.5G>T	ENSP00000386322.3:p.Trp2Leu
ENST00000409900.9:c.680G>T MANE Select	ENSP00000386741.4:p.Trp227Leu
ENST00000413882.6:c.134G>T	ENSP00000410496.2:p.Trp45Leu
ENST00000425395.6:c.*127G>T	ENSP00000405270.2:n.*127G>T
ENST00000443238.6:c.158G>T	ENSP00000409798.2:p.Trp53Leu
ENST00000444394.6:c.305G>T	ENSP00000411911.2:p.Trp102Leu
ENST00000444573.2:c.524G>T	ENSP00000392603.2:p.Trp175Leu
ENST00000488080.6:n.323G>T
ENST00000650731.1:c.5G>T	ENSP00000499146.1:p.Trp2Leu
ENST00000650938.1:c.204G>T
ENST00000651246.1:c.272G>T	ENSP00000498484.1:p.Trp91Leu
ENST00000651373.1:c.194G>T	ENSP00000499174.1:p.Trp65Leu
ENST00000651501.1:c.*127G>T	ENSP00000498894.1:n.*127G>T
ENST00000651717.1:c.253-11984G>T	ENSP00000499124.1:n.253-11984G>T
ENST00000652036.1:c.305G>T	ENSP00000499139.1:p.Trp102Leu
ENST00000652154.1:n.578G>T
ENST00000295497.11:c.305G>T	ENSP00000295497.7:p.Trp102Leu
ENST00000409089.6:c.5G>T	ENSP00000386322.2:p.Trp2Leu
ENST00000409156.7:c.602G>T	ENSP00000386470.3:p.Trp201Leu
ENST00000409597.5:c.128G>T	ENSP00000386469.1:p.Trp43Leu
ENST00000409900.7:c.680G>T	ENSP00000386741.3:p.Trp227Leu
ENST00000413882.5:c.134G>T	ENSP00000410496.1:p.Trp45Leu
ENST00000425395.5:c.*231G>T	ENSP00000405270.1:n.*231G>T
ENST00000443238.5:c.158G>T	ENSP00000409798.1:p.Trp53Leu
ENST00000444394.5:c.5G>T	ENSP00000411911.1:p.Trp2Leu
ENST00000444573.1:c.305G>T	ENSP00000392603.1:p.Trp102Leu
ENST00000485882.1:n.139G>T
ENST00000488080.5:n.531G>T
NM_001025201.3:c.602G>T	NP_001020372.2:p.Trp201Leu
NM_001206602.1:c.305G>T	NP_001193531.1:p.Trp102Leu
NM_001822.5:c.680G>T	NP_001813.1:p.Trp227Leu
NR_038133.1:n.546G>T
NM_001025201.4:c.602G>T	NP_001020372.2:p.Trp201Leu
NM_001206602.2:c.305G>T	NP_001193531.1:p.Trp102Leu
NM_001371513.1:c.680G>T	NP_001358442.1:p.Trp227Leu
NM_001371514.1:c.731G>T	NP_001358443.1:p.Trp244Leu
NM_001822.7:c.680G>T MANE Select	NP_001813.1:p.Trp227Leu
NR_038133.2:n.548G>T