Canonical Allele Identifier: CA349341999

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664882C>A (hg19) ; chr2:g.174800154C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800154C>A , CM000664.2:g.174800154C>A	GRCh38
NC_000002.11:g.175664882C>A , CM000664.1:g.175664882C>A	GRCh37
NC_000002.10:g.175373128C>A	NCBI36
NG_012642.1:g.210289G>T
NG_012642.2:g.210289G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.967G>T	ENSP00000295497.7:p.Val323Leu
ENST00000295497.12:c.967G>T	ENSP00000295497.7:p.Val323Leu
ENST00000409900.9:c.1342G>T MANE Select	ENSP00000386741.4:p.Val448Leu
ENST00000413882.6:c.796G>T	ENSP00000410496.2:p.Val266Leu
ENST00000443238.6:c.820G>T	ENSP00000409798.2:p.Val274Leu
ENST00000488080.6:n.985G>T
ENST00000650731.1:c.667G>T	ENSP00000499146.1:p.Val223Leu
ENST00000650938.1:c.728G>T
ENST00000651246.1:c.934G>T	ENSP00000498484.1:p.Val312Leu
ENST00000651501.1:c.*789G>T	ENSP00000498894.1:n.*789G>T
ENST00000651717.1:c.*618G>T	ENSP00000499124.1:n.*618G>T
ENST00000652036.1:c.1018G>T	ENSP00000499139.1:p.Val340Leu
ENST00000295497.11:c.967G>T	ENSP00000295497.7:p.Val323Leu
ENST00000409156.7:c.1264G>T	ENSP00000386470.3:p.Val422Leu
ENST00000409597.5:c.790G>T	ENSP00000386469.1:p.Val264Leu
ENST00000409900.7:c.1342G>T	ENSP00000386741.3:p.Val448Leu
ENST00000488080.5:n.1193G>T
ENST00000492964.1:n.485G>T
NM_001025201.3:c.1264G>T	NP_001020372.2:p.Val422Leu
NM_001206602.1:c.967G>T	NP_001193531.1:p.Val323Leu
NM_001822.5:c.1342G>T	NP_001813.1:p.Val448Leu
NR_038133.1:n.1208G>T
NM_001025201.4:c.1264G>T	NP_001020372.2:p.Val422Leu
NM_001206602.2:c.967G>T	NP_001193531.1:p.Val323Leu
NM_001371513.1:c.1342G>T	NP_001358442.1:p.Val448Leu
NM_001371514.1:c.1393G>T	NP_001358443.1:p.Val465Leu
NM_001822.7:c.1342G>T MANE Select	NP_001813.1:p.Val448Leu
NR_038133.2:n.1210G>T