Canonical Allele Identifier: CA349342199

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664919C>A (hg19) ; chr2:g.174800191C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800191C>A , CM000664.2:g.174800191C>A	GRCh38
NC_000002.11:g.175664919C>A , CM000664.1:g.175664919C>A	GRCh37
NC_000002.10:g.175373165C>A	NCBI36
NG_012642.1:g.210252G>T
NG_012642.2:g.210252G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.930G>T	ENSP00000295497.7:p.Met310Ile
ENST00000295497.12:c.930G>T	ENSP00000295497.7:p.Met310Ile
ENST00000409900.9:c.1305G>T MANE Select	ENSP00000386741.4:p.Met435Ile
ENST00000413882.6:c.759G>T	ENSP00000410496.2:p.Met253Ile
ENST00000443238.6:c.783G>T	ENSP00000409798.2:p.Met261Ile
ENST00000488080.6:n.948G>T
ENST00000650731.1:c.630G>T	ENSP00000499146.1:p.Met210Ile
ENST00000650938.1:c.691G>T
ENST00000651246.1:c.897G>T	ENSP00000498484.1:p.Met299Ile
ENST00000651501.1:c.*752G>T	ENSP00000498894.1:n.*752G>T
ENST00000651717.1:c.*581G>T	ENSP00000499124.1:n.*581G>T
ENST00000652036.1:c.981G>T	ENSP00000499139.1:p.Met327Ile
ENST00000295497.11:c.930G>T	ENSP00000295497.7:p.Met310Ile
ENST00000409156.7:c.1227G>T	ENSP00000386470.3:p.Met409Ile
ENST00000409597.5:c.753G>T	ENSP00000386469.1:p.Met251Ile
ENST00000409900.7:c.1305G>T	ENSP00000386741.3:p.Met435Ile
ENST00000488080.5:n.1156G>T
ENST00000492964.1:n.448G>T
NM_001025201.3:c.1227G>T	NP_001020372.2:p.Met409Ile
NM_001206602.1:c.930G>T	NP_001193531.1:p.Met310Ile
NM_001822.5:c.1305G>T	NP_001813.1:p.Met435Ile
NR_038133.1:n.1171G>T
NM_001025201.4:c.1227G>T	NP_001020372.2:p.Met409Ile
NM_001206602.2:c.930G>T	NP_001193531.1:p.Met310Ile
NM_001371513.1:c.1305G>T	NP_001358442.1:p.Met435Ile
NM_001371514.1:c.1356G>T	NP_001358443.1:p.Met452Ile
NM_001822.7:c.1305G>T MANE Select	NP_001813.1:p.Met435Ile
NR_038133.2:n.1173G>T