Canonical Allele Identifier: CA349347731

Gene: CHN1

Linked Data

• gnomAD v4: 2-174824458-T-G
• MyVariant Identifiers: chr2:g.175689186T>G (hg19) ; chr2:g.174824458T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824458T>G , CM000664.2:g.174824458T>G	GRCh38
NC_000002.11:g.175689186T>G , CM000664.1:g.175689186T>G	GRCh37
NC_000002.10:g.175397432T>G	NCBI36
NG_012642.1:g.185985A>C
NG_012642.2:g.185985A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.313A>C	ENSP00000295497.7:p.Ile105Leu
ENST00000444394.7:c.313A>C	ENSP00000411911.2:p.Ile105Leu
ENST00000295497.12:c.313A>C	ENSP00000295497.7:p.Ile105Leu
ENST00000409089.7:c.13A>C	ENSP00000386322.3:p.Ile5Leu
ENST00000409900.9:c.688A>C MANE Select	ENSP00000386741.4:p.Ile230Leu
ENST00000413882.6:c.142A>C	ENSP00000410496.2:p.Ile48Leu
ENST00000425395.6:c.*135A>C	ENSP00000405270.2:n.*135A>C
ENST00000443238.6:c.166A>C	ENSP00000409798.2:p.Ile56Leu
ENST00000444394.6:c.313A>C	ENSP00000411911.2:p.Ile105Leu
ENST00000444573.2:c.532A>C	ENSP00000392603.2:p.Ile178Leu
ENST00000488080.6:n.331A>C
ENST00000650731.1:c.13A>C	ENSP00000499146.1:p.Ile5Leu
ENST00000650938.1:c.212A>C
ENST00000651246.1:c.280A>C	ENSP00000498484.1:p.Ile94Leu
ENST00000651373.1:c.202A>C	ENSP00000499174.1:p.Ile68Leu
ENST00000651501.1:c.*135A>C	ENSP00000498894.1:n.*135A>C
ENST00000651717.1:c.253-11976A>C	ENSP00000499124.1:n.253-11976A>C
ENST00000652036.1:c.313A>C	ENSP00000499139.1:p.Ile105Leu
ENST00000652154.1:n.586A>C
ENST00000295497.11:c.313A>C	ENSP00000295497.7:p.Ile105Leu
ENST00000409089.6:c.13A>C	ENSP00000386322.2:p.Ile5Leu
ENST00000409156.7:c.610A>C	ENSP00000386470.3:p.Ile204Leu
ENST00000409597.5:c.136A>C	ENSP00000386469.1:p.Ile46Leu
ENST00000409900.7:c.688A>C	ENSP00000386741.3:p.Ile230Leu
ENST00000413882.5:c.142A>C	ENSP00000410496.1:p.Ile48Leu
ENST00000425395.5:c.*239A>C	ENSP00000405270.1:n.*239A>C
ENST00000443238.5:c.166A>C	ENSP00000409798.1:p.Ile56Leu
ENST00000444394.5:c.13A>C	ENSP00000411911.1:p.Ile5Leu
ENST00000444573.1:c.313A>C	ENSP00000392603.1:p.Ile105Leu
ENST00000485882.1:n.147A>C
ENST00000488080.5:n.539A>C
NM_001025201.3:c.610A>C	NP_001020372.2:p.Ile204Leu
NM_001206602.1:c.313A>C	NP_001193531.1:p.Ile105Leu
NM_001822.5:c.688A>C	NP_001813.1:p.Ile230Leu
NR_038133.1:n.554A>C
NM_001025201.4:c.610A>C	NP_001020372.2:p.Ile204Leu
NM_001206602.2:c.313A>C	NP_001193531.1:p.Ile105Leu
NM_001371513.1:c.688A>C	NP_001358442.1:p.Ile230Leu
NM_001371514.1:c.739A>C	NP_001358443.1:p.Ile247Leu
NM_001822.7:c.688A>C MANE Select	NP_001813.1:p.Ile230Leu
NR_038133.2:n.556A>C