Canonical Allele Identifier: CA349342658

Gene: CHN1

Linked Data

• COSMIC: COSM3837452 ; COSM3837453
• MyVariant Identifiers: chr2:g.175664997C>A (hg19) ; chr2:g.174800269C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800269C>A , CM000664.2:g.174800269C>A	GRCh38
NC_000002.11:g.175664997C>A , CM000664.1:g.175664997C>A	GRCh37
NC_000002.10:g.175373243C>A	NCBI36
NG_012642.1:g.210174G>T
NG_012642.2:g.210174G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.852G>T	ENSP00000295497.7:p.Lys284Asn
ENST00000295497.12:c.852G>T	ENSP00000295497.7:p.Lys284Asn
ENST00000409089.7:c.603G>T	ENSP00000386322.3:p.Lys201Asn
ENST00000409900.9:c.1227G>T MANE Select	ENSP00000386741.4:p.Lys409Asn
ENST00000413882.6:c.681G>T	ENSP00000410496.2:p.Lys227Asn
ENST00000443238.6:c.705G>T	ENSP00000409798.2:p.Lys235Asn
ENST00000488080.6:n.870G>T
ENST00000650731.1:c.552G>T	ENSP00000499146.1:p.Lys184Asn
ENST00000650938.1:c.613G>T
ENST00000651246.1:c.819G>T	ENSP00000498484.1:p.Lys273Asn
ENST00000651501.1:c.*674G>T	ENSP00000498894.1:n.*674G>T
ENST00000651717.1:c.*503G>T	ENSP00000499124.1:n.*503G>T
ENST00000652036.1:c.903G>T	ENSP00000499139.1:p.Lys301Asn
ENST00000295497.11:c.852G>T	ENSP00000295497.7:p.Lys284Asn
ENST00000409156.7:c.1149G>T	ENSP00000386470.3:p.Lys383Asn
ENST00000409597.5:c.675G>T	ENSP00000386469.1:p.Lys225Asn
ENST00000409900.7:c.1227G>T	ENSP00000386741.3:p.Lys409Asn
ENST00000488080.5:n.1078G>T
ENST00000492964.1:n.370G>T
NM_001025201.3:c.1149G>T	NP_001020372.2:p.Lys383Asn
NM_001206602.1:c.852G>T	NP_001193531.1:p.Lys284Asn
NM_001822.5:c.1227G>T	NP_001813.1:p.Lys409Asn
NR_038133.1:n.1093G>T
NM_001025201.4:c.1149G>T	NP_001020372.2:p.Lys383Asn
NM_001206602.2:c.852G>T	NP_001193531.1:p.Lys284Asn
NM_001371513.1:c.1227G>T	NP_001358442.1:p.Lys409Asn
NM_001371514.1:c.1278G>T	NP_001358443.1:p.Lys426Asn
NM_001822.7:c.1227G>T MANE Select	NP_001813.1:p.Lys409Asn
NR_038133.2:n.1095G>T