Canonical Allele Identifier: CA349342346

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664951T>A (hg19) ; chr2:g.174800223T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800223T>A , CM000664.2:g.174800223T>A	GRCh38
NC_000002.11:g.175664951T>A , CM000664.1:g.175664951T>A	GRCh37
NC_000002.10:g.175373197T>A	NCBI36
NG_012642.1:g.210220A>T
NG_012642.2:g.210220A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.898A>T	ENSP00000295497.7:p.Thr300Ser
ENST00000295497.12:c.898A>T	ENSP00000295497.7:p.Thr300Ser
ENST00000409900.9:c.1273A>T MANE Select	ENSP00000386741.4:p.Thr425Ser
ENST00000413882.6:c.727A>T	ENSP00000410496.2:p.Thr243Ser
ENST00000443238.6:c.751A>T	ENSP00000409798.2:p.Thr251Ser
ENST00000488080.6:n.916A>T
ENST00000650731.1:c.598A>T	ENSP00000499146.1:p.Thr200Ser
ENST00000650938.1:c.659A>T
ENST00000651246.1:c.865A>T	ENSP00000498484.1:p.Thr289Ser
ENST00000651501.1:c.*720A>T	ENSP00000498894.1:n.*720A>T
ENST00000651717.1:c.*549A>T	ENSP00000499124.1:n.*549A>T
ENST00000652036.1:c.949A>T	ENSP00000499139.1:p.Thr317Ser
ENST00000295497.11:c.898A>T	ENSP00000295497.7:p.Thr300Ser
ENST00000409156.7:c.1195A>T	ENSP00000386470.3:p.Thr399Ser
ENST00000409597.5:c.721A>T	ENSP00000386469.1:p.Thr241Ser
ENST00000409900.7:c.1273A>T	ENSP00000386741.3:p.Thr425Ser
ENST00000488080.5:n.1124A>T
ENST00000492964.1:n.416A>T
NM_001025201.3:c.1195A>T	NP_001020372.2:p.Thr399Ser
NM_001206602.1:c.898A>T	NP_001193531.1:p.Thr300Ser
NM_001822.5:c.1273A>T	NP_001813.1:p.Thr425Ser
NR_038133.1:n.1139A>T
NM_001025201.4:c.1195A>T	NP_001020372.2:p.Thr399Ser
NM_001206602.2:c.898A>T	NP_001193531.1:p.Thr300Ser
NM_001371513.1:c.1273A>T	NP_001358442.1:p.Thr425Ser
NM_001371514.1:c.1324A>T	NP_001358443.1:p.Thr442Ser
NM_001822.7:c.1273A>T MANE Select	NP_001813.1:p.Thr425Ser
NR_038133.2:n.1141A>T