Canonical Allele Identifier: CA349347738

Gene: CHN1

Linked Data

• gnomAD v4: 2-174824461-G-T
• COSMIC: COSM4840650 ; COSM4840651
• MyVariant Identifiers: chr2:g.175689189G>T (hg19) ; chr2:g.174824461G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.310C>A	ENSP00000295497.7:p.Leu104Ile
ENST00000444394.7:c.310C>A	ENSP00000411911.2:p.Leu104Ile
ENST00000295497.12:c.310C>A	ENSP00000295497.7:p.Leu104Ile
ENST00000409089.7:c.10C>A	ENSP00000386322.3:p.Leu4Ile
ENST00000409900.9:c.685C>A MANE Select	ENSP00000386741.4:p.Leu229Ile
ENST00000413882.6:c.139C>A	ENSP00000410496.2:p.Leu47Ile
ENST00000425395.6:c.*132C>A	ENSP00000405270.2:n.*132C>A
ENST00000443238.6:c.163C>A	ENSP00000409798.2:p.Leu55Ile
ENST00000444394.6:c.310C>A	ENSP00000411911.2:p.Leu104Ile
ENST00000444573.2:c.529C>A	ENSP00000392603.2:p.Leu177Ile
ENST00000488080.6:n.328C>A
ENST00000650731.1:c.10C>A	ENSP00000499146.1:p.Leu4Ile
ENST00000650938.1:c.209C>A
ENST00000651246.1:c.277C>A	ENSP00000498484.1:p.Leu93Ile
ENST00000651373.1:c.199C>A	ENSP00000499174.1:p.Leu67Ile
ENST00000651501.1:c.*132C>A	ENSP00000498894.1:n.*132C>A
ENST00000651717.1:c.253-11979C>A	ENSP00000499124.1:n.253-11979C>A
ENST00000652036.1:c.310C>A	ENSP00000499139.1:p.Leu104Ile
ENST00000652154.1:n.583C>A
ENST00000295497.11:c.310C>A	ENSP00000295497.7:p.Leu104Ile
ENST00000409089.6:c.10C>A	ENSP00000386322.2:p.Leu4Ile
ENST00000409156.7:c.607C>A	ENSP00000386470.3:p.Leu203Ile
ENST00000409597.5:c.133C>A	ENSP00000386469.1:p.Leu45Ile
ENST00000409900.7:c.685C>A	ENSP00000386741.3:p.Leu229Ile
ENST00000413882.5:c.139C>A	ENSP00000410496.1:p.Leu47Ile
ENST00000425395.5:c.*236C>A	ENSP00000405270.1:n.*236C>A
ENST00000443238.5:c.163C>A	ENSP00000409798.1:p.Leu55Ile
ENST00000444394.5:c.10C>A	ENSP00000411911.1:p.Leu4Ile
ENST00000444573.1:c.310C>A	ENSP00000392603.1:p.Leu104Ile
ENST00000485882.1:n.144C>A
ENST00000488080.5:n.536C>A
NM_001025201.3:c.607C>A	NP_001020372.2:p.Leu203Ile
NM_001206602.1:c.310C>A	NP_001193531.1:p.Leu104Ile
NM_001822.5:c.685C>A	NP_001813.1:p.Leu229Ile
NR_038133.1:n.551C>A
NM_001025201.4:c.607C>A	NP_001020372.2:p.Leu203Ile
NM_001206602.2:c.310C>A	NP_001193531.1:p.Leu104Ile
NM_001371513.1:c.685C>A	NP_001358442.1:p.Leu229Ile
NM_001371514.1:c.736C>A	NP_001358443.1:p.Leu246Ile
NM_001822.7:c.685C>A MANE Select	NP_001813.1:p.Leu229Ile
NR_038133.2:n.553C>A