Canonical Allele Identifier: CA349342753

Gene: CHN1

Linked Data

• dbSNP Id: rs1172279440
• COSMIC: COSM4523362 ; COSM4523363
• MyVariant Identifiers: chr2:g.175665014C>T (hg19) ; chr2:g.174800286C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800286C>T , CM000664.2:g.174800286C>T	GRCh38
NC_000002.11:g.175665014C>T , CM000664.1:g.175665014C>T	GRCh37
NC_000002.10:g.175373260C>T	NCBI36
NG_012642.1:g.210157G>A
NG_012642.2:g.210157G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.835G>A	ENSP00000295497.7:p.Val279Met
ENST00000444394.7:c.964G>A	ENSP00000411911.2:p.Val322Met
ENST00000295497.12:c.835G>A	ENSP00000295497.7:p.Val279Met
ENST00000409089.7:c.586G>A	ENSP00000386322.3:p.Val196Met
ENST00000409900.9:c.1210G>A MANE Select	ENSP00000386741.4:p.Val404Met
ENST00000413882.6:c.664G>A	ENSP00000410496.2:p.Val222Met
ENST00000443238.6:c.688G>A	ENSP00000409798.2:p.Val230Met
ENST00000444394.6:c.964G>A	ENSP00000411911.2:p.Val322Met
ENST00000488080.6:n.853G>A
ENST00000650731.1:c.535G>A	ENSP00000499146.1:p.Val179Met
ENST00000650938.1:c.596G>A
ENST00000651246.1:c.802G>A	ENSP00000498484.1:p.Val268Met
ENST00000651501.1:c.*657G>A	ENSP00000498894.1:n.*657G>A
ENST00000651717.1:c.*486G>A	ENSP00000499124.1:n.*486G>A
ENST00000652036.1:c.886G>A	ENSP00000499139.1:p.Val296Met
ENST00000295497.11:c.835G>A	ENSP00000295497.7:p.Val279Met
ENST00000409156.7:c.1132G>A	ENSP00000386470.3:p.Val378Met
ENST00000409597.5:c.658G>A	ENSP00000386469.1:p.Val220Met
ENST00000409900.7:c.1210G>A	ENSP00000386741.3:p.Val404Met
ENST00000488080.5:n.1061G>A
ENST00000492964.1:n.353G>A
NM_001025201.3:c.1132G>A	NP_001020372.2:p.Val378Met
NM_001206602.1:c.835G>A	NP_001193531.1:p.Val279Met
NM_001822.5:c.1210G>A	NP_001813.1:p.Val404Met
NR_038133.1:n.1076G>A
NM_001025201.4:c.1132G>A	NP_001020372.2:p.Val378Met
NM_001206602.2:c.835G>A	NP_001193531.1:p.Val279Met
NM_001371513.1:c.1210G>A	NP_001358442.1:p.Val404Met
NM_001371514.1:c.1261G>A	NP_001358443.1:p.Val421Met
NM_001822.7:c.1210G>A MANE Select	NP_001813.1:p.Val404Met
NR_038133.2:n.1078G>A