Canonical Allele Identifier: CA60838175

Gene: CHN1

Linked Data

• dbSNP Id: rs939836174
• gnomAD v2: 2-175665147-C-A
• gnomAD v3: 2-174800419-C-A
• gnomAD v4: 2-174800419-C-A
• MyVariant Identifiers: chr2:g.175665147C>A (hg19) ; chr2:g.174800419C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800419C>A , CM000664.2:g.174800419C>A	GRCh38
NC_000002.11:g.175665147C>A , CM000664.1:g.175665147C>A	GRCh37
NC_000002.10:g.175373393C>A	NCBI36
NG_012642.1:g.210024G>T
NG_012642.2:g.210024G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.834-132G>T	ENSP00000295497.7:n.834-132G>T
ENST00000444394.7:c.963-132G>T	ENSP00000411911.2:n.963-132G>T
ENST00000295497.12:c.834-132G>T	ENSP00000295497.7:n.834-132G>T
ENST00000409089.7:c.585-132G>T	ENSP00000386322.3:n.585-132G>T
ENST00000409900.9:c.1209-132G>T MANE Select	ENSP00000386741.4:n.1209-132G>T
ENST00000413882.6:c.663-132G>T	ENSP00000410496.2:n.663-132G>T
ENST00000443238.6:c.687-132G>T	ENSP00000409798.2:n.687-132G>T
ENST00000444394.6:c.963-132G>T	ENSP00000411911.2:n.963-132G>T
ENST00000488080.6:n.852-132G>T
ENST00000650731.1:c.534-132G>T	ENSP00000499146.1:n.534-132G>T
ENST00000650938.1:c.595-132G>T
ENST00000651246.1:c.801-132G>T	ENSP00000498484.1:n.801-132G>T
ENST00000651501.1:c.*656-132G>T	ENSP00000498894.1:n.*656-132G>T
ENST00000651717.1:c.*485-132G>T	ENSP00000499124.1:n.*485-132G>T
ENST00000652036.1:c.885-132G>T	ENSP00000499139.1:n.885-132G>T
ENST00000295497.11:c.834-132G>T	ENSP00000295497.7:n.834-132G>T
ENST00000409156.7:c.1131-132G>T	ENSP00000386470.3:n.1131-132G>T
ENST00000409597.5:c.657-132G>T	ENSP00000386469.1:n.657-132G>T
ENST00000409900.7:c.1209-132G>T	ENSP00000386741.3:n.1209-132G>T
ENST00000488080.5:n.1060-132G>T
ENST00000492964.1:n.352-132G>T
NM_001025201.3:c.1131-132G>T	NP_001020372.2:n.1131-132G>T
NM_001206602.1:c.834-132G>T	NP_001193531.1:n.834-132G>T
NM_001822.5:c.1209-132G>T	NP_001813.1:n.1209-132G>T
NR_038133.1:n.1075-132G>T
NM_001025201.4:c.1131-132G>T	NP_001020372.2:n.1131-132G>T
NM_001206602.2:c.834-132G>T	NP_001193531.1:n.834-132G>T
NM_001371513.1:c.1209-132G>T	NP_001358442.1:n.1209-132G>T
NM_001371514.1:c.1260-132G>T	NP_001358443.1:n.1260-132G>T
NM_001822.7:c.1209-132G>T MANE Select	NP_001813.1:n.1209-132G>T
NR_038133.2:n.1077-132G>T