Canonical Allele Identifier: CA60838020

Gene: CHN1

Linked Data

• dbSNP Id: rs771648236
• gnomAD v4: 2-174800227-T-C
• MyVariant Identifiers: chr2:g.175664955T>C (hg19) ; chr2:g.174800227T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800227T>C , CM000664.2:g.174800227T>C	GRCh38
NC_000002.11:g.175664955T>C , CM000664.1:g.175664955T>C	GRCh37
NC_000002.10:g.175373201T>C	NCBI36
NG_012642.1:g.210216A>G
NG_012642.2:g.210216A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.894A>G	ENSP00000295497.7:p.Gly298=
ENST00000295497.12:c.894A>G	ENSP00000295497.7:p.Gly298=
ENST00000409900.9:c.1269A>G MANE Select	ENSP00000386741.4:p.Gly423=
ENST00000413882.6:c.723A>G	ENSP00000410496.2:p.Gly241=
ENST00000443238.6:c.747A>G	ENSP00000409798.2:p.Gly249=
ENST00000488080.6:n.912A>G
ENST00000650731.1:c.594A>G	ENSP00000499146.1:p.Gly198=
ENST00000650938.1:c.655A>G
ENST00000651246.1:c.861A>G	ENSP00000498484.1:p.Gly287=
ENST00000651501.1:c.*716A>G	ENSP00000498894.1:n.*716A>G
ENST00000651717.1:c.*545A>G	ENSP00000499124.1:n.*545A>G
ENST00000652036.1:c.945A>G	ENSP00000499139.1:p.Gly315=
ENST00000295497.11:c.894A>G	ENSP00000295497.7:p.Gly298=
ENST00000409156.7:c.1191A>G	ENSP00000386470.3:p.Gly397=
ENST00000409597.5:c.717A>G	ENSP00000386469.1:p.Gly239=
ENST00000409900.7:c.1269A>G	ENSP00000386741.3:p.Gly423=
ENST00000488080.5:n.1120A>G
ENST00000492964.1:n.412A>G
NM_001025201.3:c.1191A>G	NP_001020372.2:p.Gly397=
NM_001206602.1:c.894A>G	NP_001193531.1:p.Gly298=
NM_001822.5:c.1269A>G	NP_001813.1:p.Gly423=
NR_038133.1:n.1135A>G
NM_001025201.4:c.1191A>G	NP_001020372.2:p.Gly397=
NM_001206602.2:c.894A>G	NP_001193531.1:p.Gly298=
NM_001371513.1:c.1269A>G	NP_001358442.1:p.Gly423=
NM_001371514.1:c.1320A>G	NP_001358443.1:p.Gly440=
NM_001822.7:c.1269A>G MANE Select	NP_001813.1:p.Gly423=
NR_038133.2:n.1137A>G