Canonical Allele Identifier: CA430017305

Gene: CHN1

Linked Data

• gnomAD v3: 2-174800239-T-C
• gnomAD v4: 2-174800239-T-C
• MyVariant Identifiers: chr2:g.175664967T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800239T>C , CM000664.2:g.174800239T>C	GRCh38
NC_000002.11:g.175664967T>C , CM000664.1:g.175664967T>C	GRCh37
NC_000002.10:g.175373213T>C	NCBI36
NG_012642.1:g.210204A>G
NG_012642.2:g.210204A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.882A>G	ENSP00000295497.7:p.Gly294=
ENST00000295497.12:c.882A>G	ENSP00000295497.7:p.Gly294=
ENST00000409900.9:c.1257A>G MANE Select	ENSP00000386741.4:p.Gly419=
ENST00000413882.6:c.711A>G	ENSP00000410496.2:p.Gly237=
ENST00000443238.6:c.735A>G	ENSP00000409798.2:p.Gly245=
ENST00000488080.6:n.900A>G
ENST00000650731.1:c.582A>G	ENSP00000499146.1:p.Gly194=
ENST00000650938.1:c.643A>G
ENST00000651246.1:c.849A>G	ENSP00000498484.1:p.Gly283=
ENST00000651501.1:c.*704A>G	ENSP00000498894.1:n.*704A>G
ENST00000651717.1:c.*533A>G	ENSP00000499124.1:n.*533A>G
ENST00000652036.1:c.933A>G	ENSP00000499139.1:p.Gly311=
ENST00000295497.11:c.882A>G	ENSP00000295497.7:p.Gly294=
ENST00000409156.7:c.1179A>G	ENSP00000386470.3:p.Gly393=
ENST00000409597.5:c.705A>G	ENSP00000386469.1:p.Gly235=
ENST00000409900.7:c.1257A>G	ENSP00000386741.3:p.Gly419=
ENST00000488080.5:n.1108A>G
ENST00000492964.1:n.400A>G
NM_001025201.3:c.1179A>G	NP_001020372.2:p.Gly393=
NM_001206602.1:c.882A>G	NP_001193531.1:p.Gly294=
NM_001822.5:c.1257A>G	NP_001813.1:p.Gly419=
NR_038133.1:n.1123A>G
NM_001025201.4:c.1179A>G	NP_001020372.2:p.Gly393=
NM_001206602.2:c.882A>G	NP_001193531.1:p.Gly294=
NM_001371513.1:c.1257A>G	NP_001358442.1:p.Gly419=
NM_001371514.1:c.1308A>G	NP_001358443.1:p.Gly436=
NM_001822.7:c.1257A>G MANE Select	NP_001813.1:p.Gly419=
NR_038133.2:n.1125A>G