Canonical Allele Identifier: CA349347733

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175689188A>G (hg19) ; chr2:g.174824460A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824460A>G , CM000664.2:g.174824460A>G	GRCh38
NC_000002.11:g.175689188A>G , CM000664.1:g.175689188A>G	GRCh37
NC_000002.10:g.175397434A>G	NCBI36
NG_012642.1:g.185983T>C
NG_012642.2:g.185983T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.311T>C	ENSP00000295497.7:p.Leu104Pro
ENST00000444394.7:c.311T>C	ENSP00000411911.2:p.Leu104Pro
ENST00000295497.12:c.311T>C	ENSP00000295497.7:p.Leu104Pro
ENST00000409089.7:c.11T>C	ENSP00000386322.3:p.Leu4Pro
ENST00000409900.9:c.686T>C MANE Select	ENSP00000386741.4:p.Leu229Pro
ENST00000413882.6:c.140T>C	ENSP00000410496.2:p.Leu47Pro
ENST00000425395.6:c.*133T>C	ENSP00000405270.2:n.*133T>C
ENST00000443238.6:c.164T>C	ENSP00000409798.2:p.Leu55Pro
ENST00000444394.6:c.311T>C	ENSP00000411911.2:p.Leu104Pro
ENST00000444573.2:c.530T>C	ENSP00000392603.2:p.Leu177Pro
ENST00000488080.6:n.329T>C
ENST00000650731.1:c.11T>C	ENSP00000499146.1:p.Leu4Pro
ENST00000650938.1:c.210T>C
ENST00000651246.1:c.278T>C	ENSP00000498484.1:p.Leu93Pro
ENST00000651373.1:c.200T>C	ENSP00000499174.1:p.Leu67Pro
ENST00000651501.1:c.*133T>C	ENSP00000498894.1:n.*133T>C
ENST00000651717.1:c.253-11978T>C	ENSP00000499124.1:n.253-11978T>C
ENST00000652036.1:c.311T>C	ENSP00000499139.1:p.Leu104Pro
ENST00000652154.1:n.584T>C
ENST00000295497.11:c.311T>C	ENSP00000295497.7:p.Leu104Pro
ENST00000409089.6:c.11T>C	ENSP00000386322.2:p.Leu4Pro
ENST00000409156.7:c.608T>C	ENSP00000386470.3:p.Leu203Pro
ENST00000409597.5:c.134T>C	ENSP00000386469.1:p.Leu45Pro
ENST00000409900.7:c.686T>C	ENSP00000386741.3:p.Leu229Pro
ENST00000413882.5:c.140T>C	ENSP00000410496.1:p.Leu47Pro
ENST00000425395.5:c.*237T>C	ENSP00000405270.1:n.*237T>C
ENST00000443238.5:c.164T>C	ENSP00000409798.1:p.Leu55Pro
ENST00000444394.5:c.11T>C	ENSP00000411911.1:p.Leu4Pro
ENST00000444573.1:c.311T>C	ENSP00000392603.1:p.Leu104Pro
ENST00000485882.1:n.145T>C
ENST00000488080.5:n.537T>C
NM_001025201.3:c.608T>C	NP_001020372.2:p.Leu203Pro
NM_001206602.1:c.311T>C	NP_001193531.1:p.Leu104Pro
NM_001822.5:c.686T>C	NP_001813.1:p.Leu229Pro
NR_038133.1:n.552T>C
NM_001025201.4:c.608T>C	NP_001020372.2:p.Leu203Pro
NM_001206602.2:c.311T>C	NP_001193531.1:p.Leu104Pro
NM_001371513.1:c.686T>C	NP_001358442.1:p.Leu229Pro
NM_001371514.1:c.737T>C	NP_001358443.1:p.Leu246Pro
NM_001822.7:c.686T>C MANE Select	NP_001813.1:p.Leu229Pro
NR_038133.2:n.554T>C