Canonical Allele Identifier: CA349342280

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664935G>T (hg19) ; chr2:g.174800207G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800207G>T , CM000664.2:g.174800207G>T	GRCh38
NC_000002.11:g.175664935G>T , CM000664.1:g.175664935G>T	GRCh37
NC_000002.10:g.175373181G>T	NCBI36
NG_012642.1:g.210236C>A
NG_012642.2:g.210236C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.914C>A	ENSP00000295497.7:p.Pro305Gln
ENST00000295497.12:c.914C>A	ENSP00000295497.7:p.Pro305Gln
ENST00000409900.9:c.1289C>A MANE Select	ENSP00000386741.4:p.Pro430Gln
ENST00000413882.6:c.743C>A	ENSP00000410496.2:p.Pro248Gln
ENST00000443238.6:c.767C>A	ENSP00000409798.2:p.Pro256Gln
ENST00000488080.6:n.932C>A
ENST00000650731.1:c.614C>A	ENSP00000499146.1:p.Pro205Gln
ENST00000650938.1:c.675C>A
ENST00000651246.1:c.881C>A	ENSP00000498484.1:p.Pro294Gln
ENST00000651501.1:c.*736C>A	ENSP00000498894.1:n.*736C>A
ENST00000651717.1:c.*565C>A	ENSP00000499124.1:n.*565C>A
ENST00000652036.1:c.965C>A	ENSP00000499139.1:p.Pro322Gln
ENST00000295497.11:c.914C>A	ENSP00000295497.7:p.Pro305Gln
ENST00000409156.7:c.1211C>A	ENSP00000386470.3:p.Pro404Gln
ENST00000409597.5:c.737C>A	ENSP00000386469.1:p.Pro246Gln
ENST00000409900.7:c.1289C>A	ENSP00000386741.3:p.Pro430Gln
ENST00000488080.5:n.1140C>A
ENST00000492964.1:n.432C>A
NM_001025201.3:c.1211C>A	NP_001020372.2:p.Pro404Gln
NM_001206602.1:c.914C>A	NP_001193531.1:p.Pro305Gln
NM_001822.5:c.1289C>A	NP_001813.1:p.Pro430Gln
NR_038133.1:n.1155C>A
NM_001025201.4:c.1211C>A	NP_001020372.2:p.Pro404Gln
NM_001206602.2:c.914C>A	NP_001193531.1:p.Pro305Gln
NM_001371513.1:c.1289C>A	NP_001358442.1:p.Pro430Gln
NM_001371514.1:c.1340C>A	NP_001358443.1:p.Pro447Gln
NM_001822.7:c.1289C>A MANE Select	NP_001813.1:p.Pro430Gln
NR_038133.2:n.1157C>A