Canonical Allele Identifier: CA349342181

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664915C>G (hg19) ; chr2:g.174800187C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800187C>G , CM000664.2:g.174800187C>G	GRCh38
NC_000002.11:g.175664915C>G , CM000664.1:g.175664915C>G	GRCh37
NC_000002.10:g.175373161C>G	NCBI36
NG_012642.1:g.210256G>C
NG_012642.2:g.210256G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.934G>C	ENSP00000295497.7:p.Ala312Pro
ENST00000295497.12:c.934G>C	ENSP00000295497.7:p.Ala312Pro
ENST00000409900.9:c.1309G>C MANE Select	ENSP00000386741.4:p.Ala437Pro
ENST00000413882.6:c.763G>C	ENSP00000410496.2:p.Ala255Pro
ENST00000443238.6:c.787G>C	ENSP00000409798.2:p.Ala263Pro
ENST00000488080.6:n.952G>C
ENST00000650731.1:c.634G>C	ENSP00000499146.1:p.Ala212Pro
ENST00000650938.1:c.695G>C
ENST00000651246.1:c.901G>C	ENSP00000498484.1:p.Ala301Pro
ENST00000651501.1:c.*756G>C	ENSP00000498894.1:n.*756G>C
ENST00000651717.1:c.*585G>C	ENSP00000499124.1:n.*585G>C
ENST00000652036.1:c.985G>C	ENSP00000499139.1:p.Ala329Pro
ENST00000295497.11:c.934G>C	ENSP00000295497.7:p.Ala312Pro
ENST00000409156.7:c.1231G>C	ENSP00000386470.3:p.Ala411Pro
ENST00000409597.5:c.757G>C	ENSP00000386469.1:p.Ala253Pro
ENST00000409900.7:c.1309G>C	ENSP00000386741.3:p.Ala437Pro
ENST00000488080.5:n.1160G>C
ENST00000492964.1:n.452G>C
NM_001025201.3:c.1231G>C	NP_001020372.2:p.Ala411Pro
NM_001206602.1:c.934G>C	NP_001193531.1:p.Ala312Pro
NM_001822.5:c.1309G>C	NP_001813.1:p.Ala437Pro
NR_038133.1:n.1175G>C
NM_001025201.4:c.1231G>C	NP_001020372.2:p.Ala411Pro
NM_001206602.2:c.934G>C	NP_001193531.1:p.Ala312Pro
NM_001371513.1:c.1309G>C	NP_001358442.1:p.Ala437Pro
NM_001371514.1:c.1360G>C	NP_001358443.1:p.Ala454Pro
NM_001822.7:c.1309G>C MANE Select	NP_001813.1:p.Ala437Pro
NR_038133.2:n.1177G>C