Canonical Allele Identifier: CA349342433

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664965A>C (hg19) ; chr2:g.174800237A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800237A>C , CM000664.2:g.174800237A>C	GRCh38
NC_000002.11:g.175664965A>C , CM000664.1:g.175664965A>C	GRCh37
NC_000002.10:g.175373211A>C	NCBI36
NG_012642.1:g.210206T>G
NG_012642.2:g.210206T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.884T>G	ENSP00000295497.7:p.Ile295Ser
ENST00000295497.12:c.884T>G	ENSP00000295497.7:p.Ile295Ser
ENST00000409900.9:c.1259T>G MANE Select	ENSP00000386741.4:p.Ile420Ser
ENST00000413882.6:c.713T>G	ENSP00000410496.2:p.Ile238Ser
ENST00000443238.6:c.737T>G	ENSP00000409798.2:p.Ile246Ser
ENST00000488080.6:n.902T>G
ENST00000650731.1:c.584T>G	ENSP00000499146.1:p.Ile195Ser
ENST00000650938.1:c.645T>G
ENST00000651246.1:c.851T>G	ENSP00000498484.1:p.Ile284Ser
ENST00000651501.1:c.*706T>G	ENSP00000498894.1:n.*706T>G
ENST00000651717.1:c.*535T>G	ENSP00000499124.1:n.*535T>G
ENST00000652036.1:c.935T>G	ENSP00000499139.1:p.Ile312Ser
ENST00000295497.11:c.884T>G	ENSP00000295497.7:p.Ile295Ser
ENST00000409156.7:c.1181T>G	ENSP00000386470.3:p.Ile394Ser
ENST00000409597.5:c.707T>G	ENSP00000386469.1:p.Ile236Ser
ENST00000409900.7:c.1259T>G	ENSP00000386741.3:p.Ile420Ser
ENST00000488080.5:n.1110T>G
ENST00000492964.1:n.402T>G
NM_001025201.3:c.1181T>G	NP_001020372.2:p.Ile394Ser
NM_001206602.1:c.884T>G	NP_001193531.1:p.Ile295Ser
NM_001822.5:c.1259T>G	NP_001813.1:p.Ile420Ser
NR_038133.1:n.1125T>G
NM_001025201.4:c.1181T>G	NP_001020372.2:p.Ile394Ser
NM_001206602.2:c.884T>G	NP_001193531.1:p.Ile295Ser
NM_001371513.1:c.1259T>G	NP_001358442.1:p.Ile420Ser
NM_001371514.1:c.1310T>G	NP_001358443.1:p.Ile437Ser
NM_001822.7:c.1259T>G MANE Select	NP_001813.1:p.Ile420Ser
NR_038133.2:n.1127T>G