Canonical Allele Identifier: CA349347769

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175689196C>A (hg19) ; chr2:g.174824468C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824468C>A , CM000664.2:g.174824468C>A	GRCh38
NC_000002.11:g.175689196C>A , CM000664.1:g.175689196C>A	GRCh37
NC_000002.10:g.175397442C>A	NCBI36
NG_012642.1:g.185975G>T
NG_012642.2:g.185975G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000295497.13:c.303G>T	ENSP00000295497.7:p.Met101Ile
ENST00000444394.7:c.303G>T	ENSP00000411911.2:p.Met101Ile
ENST00000295497.12:c.303G>T	ENSP00000295497.7:p.Met101Ile
ENST00000409089.7:c.3G>T	ENSP00000386322.3:p.Met1Ile
ENST00000409900.9:c.678G>T MANE Select	ENSP00000386741.4:p.Met226Ile
ENST00000413882.6:c.132G>T	ENSP00000410496.2:p.Met44Ile
ENST00000425395.6:c.*125G>T	ENSP00000405270.2:n.*125G>T
ENST00000443238.6:c.156G>T	ENSP00000409798.2:p.Met52Ile
ENST00000444394.6:c.303G>T	ENSP00000411911.2:p.Met101Ile
ENST00000444573.2:c.522G>T	ENSP00000392603.2:p.Met174Ile
ENST00000488080.6:n.321G>T
ENST00000650731.1:c.3G>T	ENSP00000499146.1:p.Met1Ile
ENST00000650938.1:c.202G>T
ENST00000651246.1:c.270G>T	ENSP00000498484.1:p.Met90Ile
ENST00000651373.1:c.192G>T	ENSP00000499174.1:p.Met64Ile
ENST00000651501.1:c.*125G>T	ENSP00000498894.1:n.*125G>T
ENST00000651717.1:c.253-11986G>T	ENSP00000499124.1:n.253-11986G>T
ENST00000652036.1:c.303G>T	ENSP00000499139.1:p.Met101Ile
ENST00000652154.1:n.576G>T
ENST00000295497.11:c.303G>T	ENSP00000295497.7:p.Met101Ile
ENST00000409089.6:c.3G>T	ENSP00000386322.2:p.Met1Ile
ENST00000409156.7:c.600G>T	ENSP00000386470.3:p.Met200Ile
ENST00000409597.5:c.126G>T	ENSP00000386469.1:p.Met42Ile
ENST00000409900.7:c.678G>T	ENSP00000386741.3:p.Met226Ile
ENST00000413882.5:c.132G>T	ENSP00000410496.1:p.Met44Ile
ENST00000425395.5:c.*229G>T	ENSP00000405270.1:n.*229G>T
ENST00000443238.5:c.156G>T	ENSP00000409798.1:p.Met52Ile
ENST00000444394.5:c.3G>T	ENSP00000411911.1:p.Met1Ile
ENST00000444573.1:c.303G>T	ENSP00000392603.1:p.Met101Ile
ENST00000485882.1:n.137G>T
ENST00000488080.5:n.529G>T
NM_001025201.3:c.600G>T	NP_001020372.2:p.Met200Ile
NM_001206602.1:c.303G>T	NP_001193531.1:p.Met101Ile
NM_001822.5:c.678G>T	NP_001813.1:p.Met226Ile
NR_038133.1:n.544G>T
NM_001025201.4:c.600G>T	NP_001020372.2:p.Met200Ile
NM_001206602.2:c.303G>T	NP_001193531.1:p.Met101Ile
NM_001371513.1:c.678G>T	NP_001358442.1:p.Met226Ile
NM_001371514.1:c.729G>T	NP_001358443.1:p.Met243Ile
NM_001822.7:c.678G>T MANE Select	NP_001813.1:p.Met226Ile
NR_038133.2:n.546G>T