Canonical Allele Identifier: CA760990228

Gene: CHN1

Linked Data

• dbSNP Id: rs1255666164
• gnomAD v3: 2-174799354-T-C
• gnomAD v4: 2-174799354-T-C
• MyVariant Identifiers: chr2:g.175664082T>C (hg19) ; chr2:g.174799354T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174799354T>C , CM000664.2:g.174799354T>C	GRCh38
NC_000002.11:g.175664082T>C , CM000664.1:g.175664082T>C	GRCh37
NC_000002.10:g.175372328T>C	NCBI36
NG_012642.1:g.211089A>G
NG_012642.2:g.211089A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000295497.13:c.*762A>G	ENSP00000295497.7:n.*762A>G
ENST00000295497.12:c.*762A>G	ENSP00000295497.7:n.*762A>G
ENST00000409900.9:c.*762A>G MANE Select	ENSP00000386741.4:n.*762A>G
ENST00000652036.1:c.*762A>G	ENSP00000499139.1:n.*762A>G
NM_001025201.3:c.*762A>G	NP_001020372.2:n.*762A>G
NM_001206602.1:c.*762A>G	NP_001193531.1:n.*762A>G
NM_001822.5:c.*762A>G	NP_001813.1:n.*762A>G
NR_038133.1:n.2008A>G
NM_001025201.4:c.*762A>G	NP_001020372.2:n.*762A>G
NM_001206602.2:c.*762A>G	NP_001193531.1:n.*762A>G
NM_001371513.1:c.*762A>G	NP_001358442.1:n.*762A>G
NM_001371514.1:c.*762A>G	NP_001358443.1:n.*762A>G
NM_001822.7:c.*762A>G MANE Select	NP_001813.1:n.*762A>G
NR_038133.2:n.2010A>G