Canonical Allele Identifier: CA430017294

Gene: CHN1

Linked Data

• gnomAD v4: 2-174800224-G-C
• MyVariant Identifiers: chr2:g.175664952G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800224G>C , CM000664.2:g.174800224G>C	GRCh38
NC_000002.11:g.175664952G>C , CM000664.1:g.175664952G>C	GRCh37
NC_000002.10:g.175373198G>C	NCBI36
NG_012642.1:g.210219C>G
NG_012642.2:g.210219C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.897C>G	ENSP00000295497.7:p.Pro299=
ENST00000295497.12:c.897C>G	ENSP00000295497.7:p.Pro299=
ENST00000409900.9:c.1272C>G MANE Select	ENSP00000386741.4:p.Pro424=
ENST00000413882.6:c.726C>G	ENSP00000410496.2:p.Pro242=
ENST00000443238.6:c.750C>G	ENSP00000409798.2:p.Pro250=
ENST00000488080.6:n.915C>G
ENST00000650731.1:c.597C>G	ENSP00000499146.1:p.Pro199=
ENST00000650938.1:c.658C>G
ENST00000651246.1:c.864C>G	ENSP00000498484.1:p.Pro288=
ENST00000651501.1:c.*719C>G	ENSP00000498894.1:n.*719C>G
ENST00000651717.1:c.*548C>G	ENSP00000499124.1:n.*548C>G
ENST00000652036.1:c.948C>G	ENSP00000499139.1:p.Pro316=
ENST00000295497.11:c.897C>G	ENSP00000295497.7:p.Pro299=
ENST00000409156.7:c.1194C>G	ENSP00000386470.3:p.Pro398=
ENST00000409597.5:c.720C>G	ENSP00000386469.1:p.Pro240=
ENST00000409900.7:c.1272C>G	ENSP00000386741.3:p.Pro424=
ENST00000488080.5:n.1123C>G
ENST00000492964.1:n.415C>G
NM_001025201.3:c.1194C>G	NP_001020372.2:p.Pro398=
NM_001206602.1:c.897C>G	NP_001193531.1:p.Pro299=
NM_001822.5:c.1272C>G	NP_001813.1:p.Pro424=
NR_038133.1:n.1138C>G
NM_001025201.4:c.1194C>G	NP_001020372.2:p.Pro398=
NM_001206602.2:c.897C>G	NP_001193531.1:p.Pro299=
NM_001371513.1:c.1272C>G	NP_001358442.1:p.Pro424=
NM_001371514.1:c.1323C>G	NP_001358443.1:p.Pro441=
NM_001822.7:c.1272C>G MANE Select	NP_001813.1:p.Pro424=
NR_038133.2:n.1140C>G