Canonical Allele Identifier: CA349342547

Gene: CHN1

Linked Data

• gnomAD v4: 2-174800254-A-C
• MyVariant Identifiers: chr2:g.175664982A>C (hg19) ; chr2:g.174800254A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800254A>C , CM000664.2:g.174800254A>C	GRCh38
NC_000002.11:g.175664982A>C , CM000664.1:g.175664982A>C	GRCh37
NC_000002.10:g.175373228A>C	NCBI36
NG_012642.1:g.210189T>G
NG_012642.2:g.210189T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.867T>G	ENSP00000295497.7:p.Asn289Lys
ENST00000295497.12:c.867T>G	ENSP00000295497.7:p.Asn289Lys
ENST00000409900.9:c.1242T>G MANE Select	ENSP00000386741.4:p.Asn414Lys
ENST00000413882.6:c.696T>G	ENSP00000410496.2:p.Asn232Lys
ENST00000443238.6:c.720T>G	ENSP00000409798.2:p.Asn240Lys
ENST00000488080.6:n.885T>G
ENST00000650731.1:c.567T>G	ENSP00000499146.1:p.Asn189Lys
ENST00000650938.1:c.628T>G
ENST00000651246.1:c.834T>G	ENSP00000498484.1:p.Asn278Lys
ENST00000651501.1:c.*689T>G	ENSP00000498894.1:n.*689T>G
ENST00000651717.1:c.*518T>G	ENSP00000499124.1:n.*518T>G
ENST00000652036.1:c.918T>G	ENSP00000499139.1:p.Asn306Lys
ENST00000295497.11:c.867T>G	ENSP00000295497.7:p.Asn289Lys
ENST00000409156.7:c.1164T>G	ENSP00000386470.3:p.Asn388Lys
ENST00000409597.5:c.690T>G	ENSP00000386469.1:p.Asn230Lys
ENST00000409900.7:c.1242T>G	ENSP00000386741.3:p.Asn414Lys
ENST00000488080.5:n.1093T>G
ENST00000492964.1:n.385T>G
NM_001025201.3:c.1164T>G	NP_001020372.2:p.Asn388Lys
NM_001206602.1:c.867T>G	NP_001193531.1:p.Asn289Lys
NM_001822.5:c.1242T>G	NP_001813.1:p.Asn414Lys
NR_038133.1:n.1108T>G
NM_001025201.4:c.1164T>G	NP_001020372.2:p.Asn388Lys
NM_001206602.2:c.867T>G	NP_001193531.1:p.Asn289Lys
NM_001371513.1:c.1242T>G	NP_001358442.1:p.Asn414Lys
NM_001371514.1:c.1293T>G	NP_001358443.1:p.Asn431Lys
NM_001822.7:c.1242T>G MANE Select	NP_001813.1:p.Asn414Lys
NR_038133.2:n.1110T>G