Canonical Allele Identifier: CA60852395

Gene: CHN1

Linked Data

• dbSNP Id: rs909279296
• gnomAD v2: 2-175689105-C-G
• gnomAD v3: 2-174824377-C-G
• gnomAD v4: 2-174824377-C-G
• MyVariant Identifiers: chr2:g.175689105C>G (hg19) ; chr2:g.174824377C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824377C>G , CM000664.2:g.174824377C>G	GRCh38
NC_000002.11:g.175689105C>G , CM000664.1:g.175689105C>G	GRCh37
NC_000002.10:g.175397351C>G	NCBI36
NG_012642.1:g.186066G>C
NG_012642.2:g.186066G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000295497.13:c.337+57G>C	ENSP00000295497.7:n.337+57G>C
ENST00000444394.7:c.337+57G>C	ENSP00000411911.2:n.337+57G>C
ENST00000295497.12:c.337+57G>C	ENSP00000295497.7:n.337+57G>C
ENST00000409089.7:c.37+57G>C	ENSP00000386322.3:n.37+57G>C
ENST00000409900.9:c.712+57G>C MANE Select	ENSP00000386741.4:n.712+57G>C
ENST00000413882.6:c.166+57G>C	ENSP00000410496.2:n.166+57G>C
ENST00000425395.6:c.*159+57G>C	ENSP00000405270.2:n.*159+57G>C
ENST00000443238.6:c.190+57G>C	ENSP00000409798.2:n.190+57G>C
ENST00000444394.6:c.337+57G>C	ENSP00000411911.2:n.337+57G>C
ENST00000444573.2:c.556+57G>C	ENSP00000392603.2:n.556+57G>C
ENST00000488080.6:n.355+57G>C
ENST00000650731.1:c.37+57G>C	ENSP00000499146.1:n.37+57G>C
ENST00000650938.1:c.236+57G>C
ENST00000651246.1:c.304+57G>C	ENSP00000498484.1:n.304+57G>C
ENST00000651373.1:c.226+57G>C	ENSP00000499174.1:n.226+57G>C
ENST00000651501.1:c.*159+57G>C	ENSP00000498894.1:n.*159+57G>C
ENST00000651717.1:c.253-11895G>C	ENSP00000499124.1:n.253-11895G>C
ENST00000652036.1:c.337+57G>C	ENSP00000499139.1:n.337+57G>C
ENST00000652154.1:n.610+57G>C
ENST00000295497.11:c.337+57G>C	ENSP00000295497.7:n.337+57G>C
ENST00000409089.6:c.37+57G>C	ENSP00000386322.2:n.37+57G>C
ENST00000409156.7:c.634+57G>C	ENSP00000386470.3:n.634+57G>C
ENST00000409597.5:c.160+57G>C	ENSP00000386469.1:n.160+57G>C
ENST00000409900.7:c.712+57G>C	ENSP00000386741.3:n.712+57G>C
ENST00000413882.5:c.166+57G>C	ENSP00000410496.1:n.166+57G>C
ENST00000425395.5:c.*263+57G>C	ENSP00000405270.1:n.*263+57G>C
ENST00000443238.5:c.190+57G>C	ENSP00000409798.1:n.190+57G>C
ENST00000444394.5:c.37+57G>C	ENSP00000411911.1:n.37+57G>C
ENST00000444573.1:c.337+57G>C	ENSP00000392603.1:n.337+57G>C
ENST00000485882.1:n.171+57G>C
ENST00000488080.5:n.563+57G>C
NM_001025201.3:c.634+57G>C	NP_001020372.2:n.634+57G>C
NM_001206602.1:c.337+57G>C	NP_001193531.1:n.337+57G>C
NM_001822.5:c.712+57G>C	NP_001813.1:n.712+57G>C
NR_038133.1:n.578+57G>C
NM_001025201.4:c.634+57G>C	NP_001020372.2:n.634+57G>C
NM_001206602.2:c.337+57G>C	NP_001193531.1:n.337+57G>C
NM_001371513.1:c.712+57G>C	NP_001358442.1:n.712+57G>C
NM_001371514.1:c.763+57G>C	NP_001358443.1:n.763+57G>C
NM_001822.7:c.712+57G>C MANE Select	NP_001813.1:n.712+57G>C
NR_038133.2:n.580+57G>C