Canonical Allele Identifier: CA349342236

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664926T>G (hg19) ; chr2:g.174800198T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800198T>G , CM000664.2:g.174800198T>G	GRCh38
NC_000002.11:g.175664926T>G , CM000664.1:g.175664926T>G	GRCh37
NC_000002.10:g.175373172T>G	NCBI36
NG_012642.1:g.210245A>C
NG_012642.2:g.210245A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.923A>C	ENSP00000295497.7:p.Asp308Ala
ENST00000295497.12:c.923A>C	ENSP00000295497.7:p.Asp308Ala
ENST00000409900.9:c.1298A>C MANE Select	ENSP00000386741.4:p.Asp433Ala
ENST00000413882.6:c.752A>C	ENSP00000410496.2:p.Asp251Ala
ENST00000443238.6:c.776A>C	ENSP00000409798.2:p.Asp259Ala
ENST00000488080.6:n.941A>C
ENST00000650731.1:c.623A>C	ENSP00000499146.1:p.Asp208Ala
ENST00000650938.1:c.684A>C
ENST00000651246.1:c.890A>C	ENSP00000498484.1:p.Asp297Ala
ENST00000651501.1:c.*745A>C	ENSP00000498894.1:n.*745A>C
ENST00000651717.1:c.*574A>C	ENSP00000499124.1:n.*574A>C
ENST00000652036.1:c.974A>C	ENSP00000499139.1:p.Asp325Ala
ENST00000295497.11:c.923A>C	ENSP00000295497.7:p.Asp308Ala
ENST00000409156.7:c.1220A>C	ENSP00000386470.3:p.Asp407Ala
ENST00000409597.5:c.746A>C	ENSP00000386469.1:p.Asp249Ala
ENST00000409900.7:c.1298A>C	ENSP00000386741.3:p.Asp433Ala
ENST00000488080.5:n.1149A>C
ENST00000492964.1:n.441A>C
NM_001025201.3:c.1220A>C	NP_001020372.2:p.Asp407Ala
NM_001206602.1:c.923A>C	NP_001193531.1:p.Asp308Ala
NM_001822.5:c.1298A>C	NP_001813.1:p.Asp433Ala
NR_038133.1:n.1164A>C
NM_001025201.4:c.1220A>C	NP_001020372.2:p.Asp407Ala
NM_001206602.2:c.923A>C	NP_001193531.1:p.Asp308Ala
NM_001371513.1:c.1298A>C	NP_001358442.1:p.Asp433Ala
NM_001371514.1:c.1349A>C	NP_001358443.1:p.Asp450Ala
NM_001822.7:c.1298A>C MANE Select	NP_001813.1:p.Asp433Ala
NR_038133.2:n.1166A>C