Canonical Allele Identifier: CA349342512

Gene: CHN1

Linked Data

• dbSNP Id: rs1259373016
• gnomAD v2: 2-175664976-C-G
• gnomAD v4: 2-174800248-C-G
• MyVariant Identifiers: chr2:g.175664976C>G (hg19) ; chr2:g.174800248C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800248C>G , CM000664.2:g.174800248C>G	GRCh38
NC_000002.11:g.175664976C>G , CM000664.1:g.175664976C>G	GRCh37
NC_000002.10:g.175373222C>G	NCBI36
NG_012642.1:g.210195G>C
NG_012642.2:g.210195G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.873G>C	ENSP00000295497.7:p.Glu291Asp
ENST00000295497.12:c.873G>C	ENSP00000295497.7:p.Glu291Asp
ENST00000409900.9:c.1248G>C MANE Select	ENSP00000386741.4:p.Glu416Asp
ENST00000413882.6:c.702G>C	ENSP00000410496.2:p.Glu234Asp
ENST00000443238.6:c.726G>C	ENSP00000409798.2:p.Glu242Asp
ENST00000488080.6:n.891G>C
ENST00000650731.1:c.573G>C	ENSP00000499146.1:p.Glu191Asp
ENST00000650938.1:c.634G>C
ENST00000651246.1:c.840G>C	ENSP00000498484.1:p.Glu280Asp
ENST00000651501.1:c.*695G>C	ENSP00000498894.1:n.*695G>C
ENST00000651717.1:c.*524G>C	ENSP00000499124.1:n.*524G>C
ENST00000652036.1:c.924G>C	ENSP00000499139.1:p.Glu308Asp
ENST00000295497.11:c.873G>C	ENSP00000295497.7:p.Glu291Asp
ENST00000409156.7:c.1170G>C	ENSP00000386470.3:p.Glu390Asp
ENST00000409597.5:c.696G>C	ENSP00000386469.1:p.Glu232Asp
ENST00000409900.7:c.1248G>C	ENSP00000386741.3:p.Glu416Asp
ENST00000488080.5:n.1099G>C
ENST00000492964.1:n.391G>C
NM_001025201.3:c.1170G>C	NP_001020372.2:p.Glu390Asp
NM_001206602.1:c.873G>C	NP_001193531.1:p.Glu291Asp
NM_001822.5:c.1248G>C	NP_001813.1:p.Glu416Asp
NR_038133.1:n.1114G>C
NM_001025201.4:c.1170G>C	NP_001020372.2:p.Glu390Asp
NM_001206602.2:c.873G>C	NP_001193531.1:p.Glu291Asp
NM_001371513.1:c.1248G>C	NP_001358442.1:p.Glu416Asp
NM_001371514.1:c.1299G>C	NP_001358443.1:p.Glu433Asp
NM_001822.7:c.1248G>C MANE Select	NP_001813.1:p.Glu416Asp
NR_038133.2:n.1116G>C