Canonical Allele Identifier: CA430300611

Gene: CHN1

Linked Data

• dbSNP Id: rs1301608361
• gnomAD v2: 2-175742756-A-G
• gnomAD v4: 2-174878028-A-G
• MyVariant Identifiers: chr2:g.175742756A>G (hg19) ; chr2:g.174878028A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174878028A>G , CM000664.2:g.174878028A>G	GRCh38
NC_000002.11:g.175742756A>G , CM000664.1:g.175742756A>G	GRCh37
NC_000002.10:g.175451002A>G	NCBI36
NG_012642.1:g.132415T>C
NG_012642.2:g.132415T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000409900.9:c.361T>C MANE Select	ENSP00000386741.4:p.Leu121=
ENST00000425395.6:c.105-31071T>C	ENSP00000405270.2:n.105-31071T>C
ENST00000444573.2:c.205T>C	ENSP00000392603.2:p.Leu69=
ENST00000451799.2:c.205T>C	ENSP00000416316.2:p.Leu69=
ENST00000469597.2:c.*9T>C	ENSP00000498417.1:n.*9T>C
ENST00000488080.6:n.115-2163T>C
ENST00000650734.1:c.*261T>C	ENSP00000498742.1:n.*261T>C
ENST00000650770.1:c.*275T>C	ENSP00000499036.1:n.*275T>C
ENST00000651063.1:n.412T>C
ENST00000651246.1:c.-48T>C	ENSP00000498484.1:n.-48T>C
ENST00000651315.1:c.-48T>C	ENSP00000498692.1:n.-48T>C
ENST00000651373.1:c.-48T>C	ENSP00000499174.1:n.-48T>C
ENST00000651501.1:c.105-31071T>C	ENSP00000498894.1:n.105-31071T>C
ENST00000651580.1:c.205T>C	ENSP00000498631.1:p.Leu69=
ENST00000651599.1:c.205T>C	ENSP00000498535.1:p.Leu69=
ENST00000651803.1:c.*275T>C	ENSP00000499007.1:n.*275T>C
ENST00000651971.1:c.*161T>C	ENSP00000499035.1:n.*161T>C
ENST00000652154.1:n.337T>C
ENST00000652208.1:c.205T>C	ENSP00000498475.1:p.Leu69=
ENST00000652434.1:c.322T>C	ENSP00000498549.1:p.Leu108=
ENST00000652437.1:n.504T>C
ENST00000652674.1:c.-48T>C	ENSP00000498599.1:n.-48T>C
ENST00000652734.1:n.258T>C
ENST00000652756.1:c.205T>C	ENSP00000498281.1:p.Leu69=
ENST00000652768.1:n.253T>C
ENST00000409156.7:c.361T>C	ENSP00000386470.3:p.Leu121=
ENST00000409900.7:c.361T>C	ENSP00000386741.3:p.Leu121=
ENST00000425395.5:c.*101-31071T>C	ENSP00000405270.1:n.*101-31071T>C
ENST00000469597.1:n.466T>C
ENST00000488080.5:n.401-31071T>C
ENST00000490654.1:n.336T>C
NM_001025201.3:c.361T>C	NP_001020372.2:p.Leu121=
NM_001822.5:c.361T>C	NP_001813.1:p.Leu121=
NR_038133.1:n.416-31071T>C
NM_001025201.4:c.361T>C	NP_001020372.2:p.Leu121=
NM_001371513.1:c.361T>C	NP_001358442.1:p.Leu121=
NM_001371514.1:c.412T>C	NP_001358443.1:p.Leu138=
NM_001822.7:c.361T>C MANE Select	NP_001813.1:p.Leu121=
NR_038133.2:n.418-31071T>C