Canonical Allele Identifier: CA349342287

Gene: CHN1

Linked Data

• dbSNP Id: rs1684675341
• MyVariant Identifiers: chr2:g.175664936G>C (hg19) ; chr2:g.174800208G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800208G>C , CM000664.2:g.174800208G>C	GRCh38
NC_000002.11:g.175664936G>C , CM000664.1:g.175664936G>C	GRCh37
NC_000002.10:g.175373182G>C	NCBI36
NG_012642.1:g.210235C>G
NG_012642.2:g.210235C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.913C>G	ENSP00000295497.7:p.Pro305Ala
ENST00000295497.12:c.913C>G	ENSP00000295497.7:p.Pro305Ala
ENST00000409900.9:c.1288C>G MANE Select	ENSP00000386741.4:p.Pro430Ala
ENST00000413882.6:c.742C>G	ENSP00000410496.2:p.Pro248Ala
ENST00000443238.6:c.766C>G	ENSP00000409798.2:p.Pro256Ala
ENST00000488080.6:n.931C>G
ENST00000650731.1:c.613C>G	ENSP00000499146.1:p.Pro205Ala
ENST00000650938.1:c.674C>G
ENST00000651246.1:c.880C>G	ENSP00000498484.1:p.Pro294Ala
ENST00000651501.1:c.*735C>G	ENSP00000498894.1:n.*735C>G
ENST00000651717.1:c.*564C>G	ENSP00000499124.1:n.*564C>G
ENST00000652036.1:c.964C>G	ENSP00000499139.1:p.Pro322Ala
ENST00000295497.11:c.913C>G	ENSP00000295497.7:p.Pro305Ala
ENST00000409156.7:c.1210C>G	ENSP00000386470.3:p.Pro404Ala
ENST00000409597.5:c.736C>G	ENSP00000386469.1:p.Pro246Ala
ENST00000409900.7:c.1288C>G	ENSP00000386741.3:p.Pro430Ala
ENST00000488080.5:n.1139C>G
ENST00000492964.1:n.431C>G
NM_001025201.3:c.1210C>G	NP_001020372.2:p.Pro404Ala
NM_001206602.1:c.913C>G	NP_001193531.1:p.Pro305Ala
NM_001822.5:c.1288C>G	NP_001813.1:p.Pro430Ala
NR_038133.1:n.1154C>G
NM_001025201.4:c.1210C>G	NP_001020372.2:p.Pro404Ala
NM_001206602.2:c.913C>G	NP_001193531.1:p.Pro305Ala
NM_001371513.1:c.1288C>G	NP_001358442.1:p.Pro430Ala
NM_001371514.1:c.1339C>G	NP_001358443.1:p.Pro447Ala
NM_001822.7:c.1288C>G MANE Select	NP_001813.1:p.Pro430Ala
NR_038133.2:n.1156C>G