Canonical Allele Identifier: CA349342141

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664907A>C (hg19) ; chr2:g.174800179A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800179A>C , CM000664.2:g.174800179A>C	GRCh38
NC_000002.11:g.175664907A>C , CM000664.1:g.175664907A>C	GRCh37
NC_000002.10:g.175373153A>C	NCBI36
NG_012642.1:g.210264T>G
NG_012642.2:g.210264T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.942T>G	ENSP00000295497.7:p.Asn314Lys
ENST00000295497.12:c.942T>G	ENSP00000295497.7:p.Asn314Lys
ENST00000409900.9:c.1317T>G MANE Select	ENSP00000386741.4:p.Asn439Lys
ENST00000413882.6:c.771T>G	ENSP00000410496.2:p.Asn257Lys
ENST00000443238.6:c.795T>G	ENSP00000409798.2:p.Asn265Lys
ENST00000488080.6:n.960T>G
ENST00000650731.1:c.642T>G	ENSP00000499146.1:p.Asn214Lys
ENST00000650938.1:c.703T>G
ENST00000651246.1:c.909T>G	ENSP00000498484.1:p.Asn303Lys
ENST00000651501.1:c.*764T>G	ENSP00000498894.1:n.*764T>G
ENST00000651717.1:c.*593T>G	ENSP00000499124.1:n.*593T>G
ENST00000652036.1:c.993T>G	ENSP00000499139.1:p.Asn331Lys
ENST00000295497.11:c.942T>G	ENSP00000295497.7:p.Asn314Lys
ENST00000409156.7:c.1239T>G	ENSP00000386470.3:p.Asn413Lys
ENST00000409597.5:c.765T>G	ENSP00000386469.1:p.Asn255Lys
ENST00000409900.7:c.1317T>G	ENSP00000386741.3:p.Asn439Lys
ENST00000488080.5:n.1168T>G
ENST00000492964.1:n.460T>G
NM_001025201.3:c.1239T>G	NP_001020372.2:p.Asn413Lys
NM_001206602.1:c.942T>G	NP_001193531.1:p.Asn314Lys
NM_001822.5:c.1317T>G	NP_001813.1:p.Asn439Lys
NR_038133.1:n.1183T>G
NM_001025201.4:c.1239T>G	NP_001020372.2:p.Asn413Lys
NM_001206602.2:c.942T>G	NP_001193531.1:p.Asn314Lys
NM_001371513.1:c.1317T>G	NP_001358442.1:p.Asn439Lys
NM_001371514.1:c.1368T>G	NP_001358443.1:p.Asn456Lys
NM_001822.7:c.1317T>G MANE Select	NP_001813.1:p.Asn439Lys
NR_038133.2:n.1185T>G