Canonical Allele Identifier: CA1974936

Gene: CHN1

Linked Data

• dbSNP Id: rs781351591
• ExAC: 2:175689189 G / C
• gnomAD v2: 2-175689189-G-C
• MyVariant Identifiers: chr2:g.175689189G>C (hg19) ; chr2:g.174824461G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824461G>C , CM000664.2:g.174824461G>C	GRCh38
NC_000002.11:g.175689189G>C , CM000664.1:g.175689189G>C	GRCh37
NC_000002.10:g.175397435G>C	NCBI36
NG_012642.1:g.185982C>G
NG_012642.2:g.185982C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.310C>G	ENSP00000295497.7:p.Leu104Val
ENST00000444394.7:c.310C>G	ENSP00000411911.2:p.Leu104Val
ENST00000295497.12:c.310C>G	ENSP00000295497.7:p.Leu104Val
ENST00000409089.7:c.10C>G	ENSP00000386322.3:p.Leu4Val
ENST00000409900.9:c.685C>G MANE Select	ENSP00000386741.4:p.Leu229Val
ENST00000413882.6:c.139C>G	ENSP00000410496.2:p.Leu47Val
ENST00000425395.6:c.*132C>G	ENSP00000405270.2:n.*132C>G
ENST00000443238.6:c.163C>G	ENSP00000409798.2:p.Leu55Val
ENST00000444394.6:c.310C>G	ENSP00000411911.2:p.Leu104Val
ENST00000444573.2:c.529C>G	ENSP00000392603.2:p.Leu177Val
ENST00000488080.6:n.328C>G
ENST00000650731.1:c.10C>G	ENSP00000499146.1:p.Leu4Val
ENST00000650938.1:c.209C>G
ENST00000651246.1:c.277C>G	ENSP00000498484.1:p.Leu93Val
ENST00000651373.1:c.199C>G	ENSP00000499174.1:p.Leu67Val
ENST00000651501.1:c.*132C>G	ENSP00000498894.1:n.*132C>G
ENST00000651717.1:c.253-11979C>G	ENSP00000499124.1:n.253-11979C>G
ENST00000652036.1:c.310C>G	ENSP00000499139.1:p.Leu104Val
ENST00000652154.1:n.583C>G
ENST00000295497.11:c.310C>G	ENSP00000295497.7:p.Leu104Val
ENST00000409089.6:c.10C>G	ENSP00000386322.2:p.Leu4Val
ENST00000409156.7:c.607C>G	ENSP00000386470.3:p.Leu203Val
ENST00000409597.5:c.133C>G	ENSP00000386469.1:p.Leu45Val
ENST00000409900.7:c.685C>G	ENSP00000386741.3:p.Leu229Val
ENST00000413882.5:c.139C>G	ENSP00000410496.1:p.Leu47Val
ENST00000425395.5:c.*236C>G	ENSP00000405270.1:n.*236C>G
ENST00000443238.5:c.163C>G	ENSP00000409798.1:p.Leu55Val
ENST00000444394.5:c.10C>G	ENSP00000411911.1:p.Leu4Val
ENST00000444573.1:c.310C>G	ENSP00000392603.1:p.Leu104Val
ENST00000485882.1:n.144C>G
ENST00000488080.5:n.536C>G
NM_001025201.3:c.607C>G	NP_001020372.2:p.Leu203Val
NM_001206602.1:c.310C>G	NP_001193531.1:p.Leu104Val
NM_001822.5:c.685C>G	NP_001813.1:p.Leu229Val
NR_038133.1:n.551C>G
NM_001025201.4:c.607C>G	NP_001020372.2:p.Leu203Val
NM_001206602.2:c.310C>G	NP_001193531.1:p.Leu104Val
NM_001371513.1:c.685C>G	NP_001358442.1:p.Leu229Val
NM_001371514.1:c.736C>G	NP_001358443.1:p.Leu246Val
NM_001822.7:c.685C>G MANE Select	NP_001813.1:p.Leu229Val
NR_038133.2:n.553C>G