Canonical Allele Identifier: CA349342559

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664984T>G (hg19) ; chr2:g.174800256T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800256T>G , CM000664.2:g.174800256T>G	GRCh38
NC_000002.11:g.175664984T>G , CM000664.1:g.175664984T>G	GRCh37
NC_000002.10:g.175373230T>G	NCBI36
NG_012642.1:g.210187A>C
NG_012642.2:g.210187A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.865A>C	ENSP00000295497.7:p.Asn289His
ENST00000295497.12:c.865A>C	ENSP00000295497.7:p.Asn289His
ENST00000409900.9:c.1240A>C MANE Select	ENSP00000386741.4:p.Asn414His
ENST00000413882.6:c.694A>C	ENSP00000410496.2:p.Asn232His
ENST00000443238.6:c.718A>C	ENSP00000409798.2:p.Asn240His
ENST00000488080.6:n.883A>C
ENST00000650731.1:c.565A>C	ENSP00000499146.1:p.Asn189His
ENST00000650938.1:c.626A>C
ENST00000651246.1:c.832A>C	ENSP00000498484.1:p.Asn278His
ENST00000651501.1:c.*687A>C	ENSP00000498894.1:n.*687A>C
ENST00000651717.1:c.*516A>C	ENSP00000499124.1:n.*516A>C
ENST00000652036.1:c.916A>C	ENSP00000499139.1:p.Asn306His
ENST00000295497.11:c.865A>C	ENSP00000295497.7:p.Asn289His
ENST00000409156.7:c.1162A>C	ENSP00000386470.3:p.Asn388His
ENST00000409597.5:c.688A>C	ENSP00000386469.1:p.Asn230His
ENST00000409900.7:c.1240A>C	ENSP00000386741.3:p.Asn414His
ENST00000488080.5:n.1091A>C
ENST00000492964.1:n.383A>C
NM_001025201.3:c.1162A>C	NP_001020372.2:p.Asn388His
NM_001206602.1:c.865A>C	NP_001193531.1:p.Asn289His
NM_001822.5:c.1240A>C	NP_001813.1:p.Asn414His
NR_038133.1:n.1106A>C
NM_001025201.4:c.1162A>C	NP_001020372.2:p.Asn388His
NM_001206602.2:c.865A>C	NP_001193531.1:p.Asn289His
NM_001371513.1:c.1240A>C	NP_001358442.1:p.Asn414His
NM_001371514.1:c.1291A>C	NP_001358443.1:p.Asn431His
NM_001822.7:c.1240A>C MANE Select	NP_001813.1:p.Asn414His
NR_038133.2:n.1108A>C