Canonical Allele Identifier: CA349347724

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175689183C>G (hg19) ; chr2:g.174824455C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824455C>G , CM000664.2:g.174824455C>G	GRCh38
NC_000002.11:g.175689183C>G , CM000664.1:g.175689183C>G	GRCh37
NC_000002.10:g.175397429C>G	NCBI36
NG_012642.1:g.185988G>C
NG_012642.2:g.185988G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.316G>C	ENSP00000295497.7:p.Ala106Pro
ENST00000444394.7:c.316G>C	ENSP00000411911.2:p.Ala106Pro
ENST00000295497.12:c.316G>C	ENSP00000295497.7:p.Ala106Pro
ENST00000409089.7:c.16G>C	ENSP00000386322.3:p.Ala6Pro
ENST00000409900.9:c.691G>C MANE Select	ENSP00000386741.4:p.Ala231Pro
ENST00000413882.6:c.145G>C	ENSP00000410496.2:p.Ala49Pro
ENST00000425395.6:c.*138G>C	ENSP00000405270.2:n.*138G>C
ENST00000443238.6:c.169G>C	ENSP00000409798.2:p.Ala57Pro
ENST00000444394.6:c.316G>C	ENSP00000411911.2:p.Ala106Pro
ENST00000444573.2:c.535G>C	ENSP00000392603.2:p.Ala179Pro
ENST00000488080.6:n.334G>C
ENST00000650731.1:c.16G>C	ENSP00000499146.1:p.Ala6Pro
ENST00000650938.1:c.215G>C
ENST00000651246.1:c.283G>C	ENSP00000498484.1:p.Ala95Pro
ENST00000651373.1:c.205G>C	ENSP00000499174.1:p.Ala69Pro
ENST00000651501.1:c.*138G>C	ENSP00000498894.1:n.*138G>C
ENST00000651717.1:c.253-11973G>C	ENSP00000499124.1:n.253-11973G>C
ENST00000652036.1:c.316G>C	ENSP00000499139.1:p.Ala106Pro
ENST00000652154.1:n.589G>C
ENST00000295497.11:c.316G>C	ENSP00000295497.7:p.Ala106Pro
ENST00000409089.6:c.16G>C	ENSP00000386322.2:p.Ala6Pro
ENST00000409156.7:c.613G>C	ENSP00000386470.3:p.Ala205Pro
ENST00000409597.5:c.139G>C	ENSP00000386469.1:p.Ala47Pro
ENST00000409900.7:c.691G>C	ENSP00000386741.3:p.Ala231Pro
ENST00000413882.5:c.145G>C	ENSP00000410496.1:p.Ala49Pro
ENST00000425395.5:c.*242G>C	ENSP00000405270.1:n.*242G>C
ENST00000443238.5:c.169G>C	ENSP00000409798.1:p.Ala57Pro
ENST00000444394.5:c.16G>C	ENSP00000411911.1:p.Ala6Pro
ENST00000444573.1:c.316G>C	ENSP00000392603.1:p.Ala106Pro
ENST00000485882.1:n.150G>C
ENST00000488080.5:n.542G>C
NM_001025201.3:c.613G>C	NP_001020372.2:p.Ala205Pro
NM_001206602.1:c.316G>C	NP_001193531.1:p.Ala106Pro
NM_001822.5:c.691G>C	NP_001813.1:p.Ala231Pro
NR_038133.1:n.557G>C
NM_001025201.4:c.613G>C	NP_001020372.2:p.Ala205Pro
NM_001206602.2:c.316G>C	NP_001193531.1:p.Ala106Pro
NM_001371513.1:c.691G>C	NP_001358442.1:p.Ala231Pro
NM_001371514.1:c.742G>C	NP_001358443.1:p.Ala248Pro
NM_001822.7:c.691G>C MANE Select	NP_001813.1:p.Ala231Pro
NR_038133.2:n.559G>C