Canonical Allele Identifier: CA349342447

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664968C>G (hg19) ; chr2:g.174800240C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800240C>G , CM000664.2:g.174800240C>G	GRCh38
NC_000002.11:g.175664968C>G , CM000664.1:g.175664968C>G	GRCh37
NC_000002.10:g.175373214C>G	NCBI36
NG_012642.1:g.210203G>C
NG_012642.2:g.210203G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.881G>C	ENSP00000295497.7:p.Gly294Ala
ENST00000295497.12:c.881G>C	ENSP00000295497.7:p.Gly294Ala
ENST00000409900.9:c.1256G>C MANE Select	ENSP00000386741.4:p.Gly419Ala
ENST00000413882.6:c.710G>C	ENSP00000410496.2:p.Gly237Ala
ENST00000443238.6:c.734G>C	ENSP00000409798.2:p.Gly245Ala
ENST00000488080.6:n.899G>C
ENST00000650731.1:c.581G>C	ENSP00000499146.1:p.Gly194Ala
ENST00000650938.1:c.642G>C
ENST00000651246.1:c.848G>C	ENSP00000498484.1:p.Gly283Ala
ENST00000651501.1:c.*703G>C	ENSP00000498894.1:n.*703G>C
ENST00000651717.1:c.*532G>C	ENSP00000499124.1:n.*532G>C
ENST00000652036.1:c.932G>C	ENSP00000499139.1:p.Gly311Ala
ENST00000295497.11:c.881G>C	ENSP00000295497.7:p.Gly294Ala
ENST00000409156.7:c.1178G>C	ENSP00000386470.3:p.Gly393Ala
ENST00000409597.5:c.704G>C	ENSP00000386469.1:p.Gly235Ala
ENST00000409900.7:c.1256G>C	ENSP00000386741.3:p.Gly419Ala
ENST00000488080.5:n.1107G>C
ENST00000492964.1:n.399G>C
NM_001025201.3:c.1178G>C	NP_001020372.2:p.Gly393Ala
NM_001206602.1:c.881G>C	NP_001193531.1:p.Gly294Ala
NM_001822.5:c.1256G>C	NP_001813.1:p.Gly419Ala
NR_038133.1:n.1122G>C
NM_001025201.4:c.1178G>C	NP_001020372.2:p.Gly393Ala
NM_001206602.2:c.881G>C	NP_001193531.1:p.Gly294Ala
NM_001371513.1:c.1256G>C	NP_001358442.1:p.Gly419Ala
NM_001371514.1:c.1307G>C	NP_001358443.1:p.Gly436Ala
NM_001822.7:c.1256G>C MANE Select	NP_001813.1:p.Gly419Ala
NR_038133.2:n.1124G>C