Canonical Allele Identifier: CA430017368

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664991A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800263A>G , CM000664.2:g.174800263A>G	GRCh38
NC_000002.11:g.175664991A>G , CM000664.1:g.175664991A>G	GRCh37
NC_000002.10:g.175373237A>G	NCBI36
NG_012642.1:g.210180T>C
NG_012642.2:g.210180T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.858T>C	ENSP00000295497.7:p.Asn286=
ENST00000295497.12:c.858T>C	ENSP00000295497.7:p.Asn286=
ENST00000409089.7:c.609T>C	ENSP00000386322.3:p.Asn203=
ENST00000409900.9:c.1233T>C MANE Select	ENSP00000386741.4:p.Asn411=
ENST00000413882.6:c.687T>C	ENSP00000410496.2:p.Asn229=
ENST00000443238.6:c.711T>C	ENSP00000409798.2:p.Asn237=
ENST00000488080.6:n.876T>C
ENST00000650731.1:c.558T>C	ENSP00000499146.1:p.Asn186=
ENST00000650938.1:c.619T>C
ENST00000651246.1:c.825T>C	ENSP00000498484.1:p.Asn275=
ENST00000651501.1:c.*680T>C	ENSP00000498894.1:n.*680T>C
ENST00000651717.1:c.*509T>C	ENSP00000499124.1:n.*509T>C
ENST00000652036.1:c.909T>C	ENSP00000499139.1:p.Asn303=
ENST00000295497.11:c.858T>C	ENSP00000295497.7:p.Asn286=
ENST00000409156.7:c.1155T>C	ENSP00000386470.3:p.Asn385=
ENST00000409597.5:c.681T>C	ENSP00000386469.1:p.Asn227=
ENST00000409900.7:c.1233T>C	ENSP00000386741.3:p.Asn411=
ENST00000488080.5:n.1084T>C
ENST00000492964.1:n.376T>C
NM_001025201.3:c.1155T>C	NP_001020372.2:p.Asn385=
NM_001206602.1:c.858T>C	NP_001193531.1:p.Asn286=
NM_001822.5:c.1233T>C	NP_001813.1:p.Asn411=
NR_038133.1:n.1099T>C
NM_001025201.4:c.1155T>C	NP_001020372.2:p.Asn385=
NM_001206602.2:c.858T>C	NP_001193531.1:p.Asn286=
NM_001371513.1:c.1233T>C	NP_001358442.1:p.Asn411=
NM_001371514.1:c.1284T>C	NP_001358443.1:p.Asn428=
NM_001822.7:c.1233T>C MANE Select	NP_001813.1:p.Asn411=
NR_038133.2:n.1101T>C