Canonical Allele Identifier: CA430017131

Gene: CHN1

Linked Data

• dbSNP Id: rs1684674238
• MyVariant Identifiers: chr2:g.175664916A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800188A>G , CM000664.2:g.174800188A>G	GRCh38
NC_000002.11:g.175664916A>G , CM000664.1:g.175664916A>G	GRCh37
NC_000002.10:g.175373162A>G	NCBI36
NG_012642.1:g.210255T>C
NG_012642.2:g.210255T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.933T>C	ENSP00000295497.7:p.Ala311=
ENST00000295497.12:c.933T>C	ENSP00000295497.7:p.Ala311=
ENST00000409900.9:c.1308T>C MANE Select	ENSP00000386741.4:p.Ala436=
ENST00000413882.6:c.762T>C	ENSP00000410496.2:p.Ala254=
ENST00000443238.6:c.786T>C	ENSP00000409798.2:p.Ala262=
ENST00000488080.6:n.951T>C
ENST00000650731.1:c.633T>C	ENSP00000499146.1:p.Ala211=
ENST00000650938.1:c.694T>C
ENST00000651246.1:c.900T>C	ENSP00000498484.1:p.Ala300=
ENST00000651501.1:c.*755T>C	ENSP00000498894.1:n.*755T>C
ENST00000651717.1:c.*584T>C	ENSP00000499124.1:n.*584T>C
ENST00000652036.1:c.984T>C	ENSP00000499139.1:p.Ala328=
ENST00000295497.11:c.933T>C	ENSP00000295497.7:p.Ala311=
ENST00000409156.7:c.1230T>C	ENSP00000386470.3:p.Ala410=
ENST00000409597.5:c.756T>C	ENSP00000386469.1:p.Ala252=
ENST00000409900.7:c.1308T>C	ENSP00000386741.3:p.Ala436=
ENST00000488080.5:n.1159T>C
ENST00000492964.1:n.451T>C
NM_001025201.3:c.1230T>C	NP_001020372.2:p.Ala410=
NM_001206602.1:c.933T>C	NP_001193531.1:p.Ala311=
NM_001822.5:c.1308T>C	NP_001813.1:p.Ala436=
NR_038133.1:n.1174T>C
NM_001025201.4:c.1230T>C	NP_001020372.2:p.Ala410=
NM_001206602.2:c.933T>C	NP_001193531.1:p.Ala311=
NM_001371513.1:c.1308T>C	NP_001358442.1:p.Ala436=
NM_001371514.1:c.1359T>C	NP_001358443.1:p.Ala453=
NM_001822.7:c.1308T>C MANE Select	NP_001813.1:p.Ala436=
NR_038133.2:n.1176T>C