Canonical Allele Identifier: CA430017117

Gene: CHN1

Linked Data

• gnomAD v4: 2-174800185-T-G
• MyVariant Identifiers: chr2:g.175664913T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800185T>G , CM000664.2:g.174800185T>G	GRCh38
NC_000002.11:g.175664913T>G , CM000664.1:g.175664913T>G	GRCh37
NC_000002.10:g.175373159T>G	NCBI36
NG_012642.1:g.210258A>C
NG_012642.2:g.210258A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.936A>C	ENSP00000295497.7:p.Ala312=
ENST00000295497.12:c.936A>C	ENSP00000295497.7:p.Ala312=
ENST00000409900.9:c.1311A>C MANE Select	ENSP00000386741.4:p.Ala437=
ENST00000413882.6:c.765A>C	ENSP00000410496.2:p.Ala255=
ENST00000443238.6:c.789A>C	ENSP00000409798.2:p.Ala263=
ENST00000488080.6:n.954A>C
ENST00000650731.1:c.636A>C	ENSP00000499146.1:p.Ala212=
ENST00000650938.1:c.697A>C
ENST00000651246.1:c.903A>C	ENSP00000498484.1:p.Ala301=
ENST00000651501.1:c.*758A>C	ENSP00000498894.1:n.*758A>C
ENST00000651717.1:c.*587A>C	ENSP00000499124.1:n.*587A>C
ENST00000652036.1:c.987A>C	ENSP00000499139.1:p.Ala329=
ENST00000295497.11:c.936A>C	ENSP00000295497.7:p.Ala312=
ENST00000409156.7:c.1233A>C	ENSP00000386470.3:p.Ala411=
ENST00000409597.5:c.759A>C	ENSP00000386469.1:p.Ala253=
ENST00000409900.7:c.1311A>C	ENSP00000386741.3:p.Ala437=
ENST00000488080.5:n.1162A>C
ENST00000492964.1:n.454A>C
NM_001025201.3:c.1233A>C	NP_001020372.2:p.Ala411=
NM_001206602.1:c.936A>C	NP_001193531.1:p.Ala312=
NM_001822.5:c.1311A>C	NP_001813.1:p.Ala437=
NR_038133.1:n.1177A>C
NM_001025201.4:c.1233A>C	NP_001020372.2:p.Ala411=
NM_001206602.2:c.936A>C	NP_001193531.1:p.Ala312=
NM_001371513.1:c.1311A>C	NP_001358442.1:p.Ala437=
NM_001371514.1:c.1362A>C	NP_001358443.1:p.Ala454=
NM_001822.7:c.1311A>C MANE Select	NP_001813.1:p.Ala437=
NR_038133.2:n.1179A>C