Canonical Allele Identifier: CA349347895

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175689224T>A (hg19) ; chr2:g.174824496T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824496T>A , CM000664.2:g.174824496T>A	GRCh38
NC_000002.11:g.175689224T>A , CM000664.1:g.175689224T>A	GRCh37
NC_000002.10:g.175397470T>A	NCBI36
NG_012642.1:g.185947A>T
NG_012642.2:g.185947A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.275A>T	ENSP00000295497.7:p.His92Leu
ENST00000444394.7:c.275A>T	ENSP00000411911.2:p.His92Leu
ENST00000295497.12:c.275A>T	ENSP00000295497.7:p.His92Leu
ENST00000409089.7:c.-26A>T	ENSP00000386322.3:n.-26A>T
ENST00000409900.9:c.650A>T MANE Select	ENSP00000386741.4:p.His217Leu
ENST00000413882.6:c.104A>T	ENSP00000410496.2:p.His35Leu
ENST00000425395.6:c.*97A>T	ENSP00000405270.2:n.*97A>T
ENST00000443238.6:c.128A>T	ENSP00000409798.2:p.His43Leu
ENST00000444394.6:c.275A>T	ENSP00000411911.2:p.His92Leu
ENST00000444573.2:c.494A>T	ENSP00000392603.2:p.His165Leu
ENST00000451799.2:c.494A>T	ENSP00000416316.2:p.His165Leu
ENST00000469597.2:c.*298A>T	ENSP00000498417.1:n.*298A>T
ENST00000488080.6:n.293A>T
ENST00000650731.1:c.-26A>T	ENSP00000499146.1:n.-26A>T
ENST00000650734.1:c.*550A>T	ENSP00000498742.1:n.*550A>T
ENST00000650770.1:c.*564A>T	ENSP00000499036.1:n.*564A>T
ENST00000650938.1:c.174A>T
ENST00000651246.1:c.242A>T	ENSP00000498484.1:p.His81Leu
ENST00000651315.1:c.242A>T	ENSP00000498692.1:p.His81Leu
ENST00000651373.1:c.164A>T	ENSP00000499174.1:p.His55Leu
ENST00000651501.1:c.*97A>T	ENSP00000498894.1:n.*97A>T
ENST00000651580.1:c.*229A>T	ENSP00000498631.1:n.*229A>T
ENST00000651599.1:c.*134A>T	ENSP00000498535.1:n.*134A>T
ENST00000651717.1:c.253-12014A>T	ENSP00000499124.1:n.253-12014A>T
ENST00000651803.1:c.*642A>T	ENSP00000499007.1:n.*642A>T
ENST00000651971.1:c.*450A>T	ENSP00000499035.1:n.*450A>T
ENST00000652036.1:c.275A>T	ENSP00000499139.1:p.His92Leu
ENST00000652154.1:n.548A>T
ENST00000652208.1:c.494A>T	ENSP00000498475.1:p.His165Leu
ENST00000652434.1:c.611A>T	ENSP00000498549.1:p.His204Leu
ENST00000652437.1:n.793A>T
ENST00000652674.1:c.*134A>T	ENSP00000498599.1:n.*134A>T
ENST00000652734.1:n.547A>T
ENST00000652756.1:c.494A>T	ENSP00000498281.1:p.His165Leu
ENST00000652768.1:n.542A>T
ENST00000295497.11:c.275A>T	ENSP00000295497.7:p.His92Leu
ENST00000409089.6:c.-26A>T	ENSP00000386322.2:n.-26A>T
ENST00000409156.7:c.572A>T	ENSP00000386470.3:p.His191Leu
ENST00000409597.5:c.98A>T	ENSP00000386469.1:p.His33Leu
ENST00000409900.7:c.650A>T	ENSP00000386741.3:p.His217Leu
ENST00000413882.5:c.104A>T	ENSP00000410496.1:p.His35Leu
ENST00000425395.5:c.*201A>T	ENSP00000405270.1:n.*201A>T
ENST00000443238.5:c.128A>T	ENSP00000409798.1:p.His43Leu
ENST00000444394.5:c.-26A>T	ENSP00000411911.1:n.-26A>T
ENST00000444573.1:c.275A>T	ENSP00000392603.1:p.His92Leu
ENST00000485882.1:n.109A>T
ENST00000488080.5:n.501A>T
NM_001025201.3:c.572A>T	NP_001020372.2:p.His191Leu
NM_001206602.1:c.275A>T	NP_001193531.1:p.His92Leu
NM_001822.5:c.650A>T	NP_001813.1:p.His217Leu
NR_038133.1:n.516A>T
NM_001025201.4:c.572A>T	NP_001020372.2:p.His191Leu
NM_001206602.2:c.275A>T	NP_001193531.1:p.His92Leu
NM_001371513.1:c.650A>T	NP_001358442.1:p.His217Leu
NM_001371514.1:c.701A>T	NP_001358443.1:p.His234Leu
NM_001822.7:c.650A>T MANE Select	NP_001813.1:p.His217Leu
NR_038133.2:n.518A>T