Canonical Allele Identifier: CA1974765

Gene: CHN1

Linked Data

• ClinVar Variation Id: 332460
• ClinVar RCV Id: RCV000319595
• dbSNP Id: rs529610497
• ExAC: 2:175664690 C / T
• gnomAD v2: 2-175664690-C-T
• gnomAD v3: 2-174799962-C-T
• gnomAD v4: 2-174799962-C-T
• MyVariant Identifiers: chr2:g.175664690C>T (hg19) ; chr2:g.174799962C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174799962C>T , CM000664.2:g.174799962C>T	GRCh38
NC_000002.11:g.175664690C>T , CM000664.1:g.175664690C>T	GRCh37
NC_000002.10:g.175372936C>T	NCBI36
NG_012642.1:g.210481G>A
NG_012642.2:g.210481G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000295497.13:c.*154G>A	ENSP00000295497.7:n.*154G>A
ENST00000295497.12:c.*154G>A	ENSP00000295497.7:n.*154G>A
ENST00000409900.9:c.*154G>A MANE Select	ENSP00000386741.4:n.*154G>A
ENST00000413882.6:c.*154G>A	ENSP00000410496.2:n.*154G>A
ENST00000443238.6:c.*154G>A	ENSP00000409798.2:n.*154G>A
ENST00000488080.6:n.1177G>A
ENST00000650731.1:c.*154G>A	ENSP00000499146.1:n.*154G>A
ENST00000650938.1:c.920G>A
ENST00000651246.1:c.*154G>A	ENSP00000498484.1:n.*154G>A
ENST00000651501.1:c.*981G>A	ENSP00000498894.1:n.*981G>A
ENST00000651717.1:c.*810G>A	ENSP00000499124.1:n.*810G>A
ENST00000652036.1:c.*154G>A	ENSP00000499139.1:n.*154G>A
ENST00000295497.11:c.*154G>A	ENSP00000295497.7:n.*154G>A
ENST00000409597.5:c.*154G>A	ENSP00000386469.1:n.*154G>A
ENST00000409900.7:c.*154G>A	ENSP00000386741.3:n.*154G>A
ENST00000488080.5:n.1385G>A
ENST00000492964.1:n.677G>A
NM_001025201.3:c.*154G>A	NP_001020372.2:n.*154G>A
NM_001206602.1:c.*154G>A	NP_001193531.1:n.*154G>A
NM_001822.5:c.*154G>A	NP_001813.1:n.*154G>A
NR_038133.1:n.1400G>A
NM_001025201.4:c.*154G>A	NP_001020372.2:n.*154G>A
NM_001206602.2:c.*154G>A	NP_001193531.1:n.*154G>A
NM_001371513.1:c.*154G>A	NP_001358442.1:n.*154G>A
NM_001371514.1:c.*154G>A	NP_001358443.1:n.*154G>A
NM_001822.7:c.*154G>A MANE Select	NP_001813.1:n.*154G>A
NR_038133.2:n.1402G>A