Canonical Allele Identifier: CA349347965

Gene: CHN1

Linked Data

• gnomAD v4: 2-174824514-T-A
• MyVariant Identifiers: chr2:g.175689242T>A (hg19) ; chr2:g.174824514T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824514T>A , CM000664.2:g.174824514T>A	GRCh38
NC_000002.11:g.175689242T>A , CM000664.1:g.175689242T>A	GRCh37
NC_000002.10:g.175397488T>A	NCBI36
NG_012642.1:g.185929A>T
NG_012642.2:g.185929A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.257A>T	ENSP00000295497.7:p.His86Leu
ENST00000444394.7:c.257A>T	ENSP00000411911.2:p.His86Leu
ENST00000295497.12:c.257A>T	ENSP00000295497.7:p.His86Leu
ENST00000409089.7:c.-44A>T	ENSP00000386322.3:n.-44A>T
ENST00000409900.9:c.632A>T MANE Select	ENSP00000386741.4:p.His211Leu
ENST00000413882.6:c.86A>T	ENSP00000410496.2:p.His29Leu
ENST00000425395.6:c.*79A>T	ENSP00000405270.2:n.*79A>T
ENST00000443238.6:c.110A>T	ENSP00000409798.2:p.His37Leu
ENST00000444394.6:c.257A>T	ENSP00000411911.2:p.His86Leu
ENST00000444573.2:c.476A>T	ENSP00000392603.2:p.His159Leu
ENST00000451799.2:c.476A>T	ENSP00000416316.2:p.His159Leu
ENST00000469597.2:c.*280A>T	ENSP00000498417.1:n.*280A>T
ENST00000488080.6:n.275A>T
ENST00000650731.1:c.-44A>T	ENSP00000499146.1:n.-44A>T
ENST00000650734.1:c.*532A>T	ENSP00000498742.1:n.*532A>T
ENST00000650770.1:c.*546A>T	ENSP00000499036.1:n.*546A>T
ENST00000650938.1:c.156A>T
ENST00000651246.1:c.224A>T	ENSP00000498484.1:p.His75Leu
ENST00000651315.1:c.224A>T	ENSP00000498692.1:p.His75Leu
ENST00000651373.1:c.146A>T	ENSP00000499174.1:p.His49Leu
ENST00000651501.1:c.*79A>T	ENSP00000498894.1:n.*79A>T
ENST00000651580.1:c.*211A>T	ENSP00000498631.1:n.*211A>T
ENST00000651599.1:c.*116A>T	ENSP00000498535.1:n.*116A>T
ENST00000651717.1:c.253-12032A>T	ENSP00000499124.1:n.253-12032A>T
ENST00000651803.1:c.*624A>T	ENSP00000499007.1:n.*624A>T
ENST00000651971.1:c.*432A>T	ENSP00000499035.1:n.*432A>T
ENST00000652036.1:c.257A>T	ENSP00000499139.1:p.His86Leu
ENST00000652154.1:n.530A>T
ENST00000652208.1:c.476A>T	ENSP00000498475.1:p.His159Leu
ENST00000652434.1:c.593A>T	ENSP00000498549.1:p.His198Leu
ENST00000652437.1:n.775A>T
ENST00000652674.1:c.*116A>T	ENSP00000498599.1:n.*116A>T
ENST00000652734.1:n.529A>T
ENST00000652756.1:c.476A>T	ENSP00000498281.1:p.His159Leu
ENST00000652768.1:n.524A>T
ENST00000295497.11:c.257A>T	ENSP00000295497.7:p.His86Leu
ENST00000409089.6:c.-44A>T	ENSP00000386322.2:n.-44A>T
ENST00000409156.7:c.554A>T	ENSP00000386470.3:p.His185Leu
ENST00000409597.5:c.80A>T	ENSP00000386469.1:p.His27Leu
ENST00000409900.7:c.632A>T	ENSP00000386741.3:p.His211Leu
ENST00000413882.5:c.86A>T	ENSP00000410496.1:p.His29Leu
ENST00000425395.5:c.*183A>T	ENSP00000405270.1:n.*183A>T
ENST00000443238.5:c.110A>T	ENSP00000409798.1:p.His37Leu
ENST00000444394.5:c.-44A>T	ENSP00000411911.1:n.-44A>T
ENST00000444573.1:c.257A>T	ENSP00000392603.1:p.His86Leu
ENST00000485882.1:n.91A>T
ENST00000488080.5:n.483A>T
NM_001025201.3:c.554A>T	NP_001020372.2:p.His185Leu
NM_001206602.1:c.257A>T	NP_001193531.1:p.His86Leu
NM_001822.5:c.632A>T	NP_001813.1:p.His211Leu
NR_038133.1:n.498A>T
NM_001025201.4:c.554A>T	NP_001020372.2:p.His185Leu
NM_001206602.2:c.257A>T	NP_001193531.1:p.His86Leu
NM_001371513.1:c.632A>T	NP_001358442.1:p.His211Leu
NM_001371514.1:c.683A>T	NP_001358443.1:p.His228Leu
NM_001822.7:c.632A>T MANE Select	NP_001813.1:p.His211Leu
NR_038133.2:n.500A>T