Canonical Allele Identifier: CA537762373

Gene: CHN1

Linked Data

• dbSNP Id: rs1233852028
• gnomAD v2: 2-175664170-G-GA
• gnomAD v4: 2-174799442-G-GA
• MyVariant Identifiers: chr2:g.175664170_175664171insA (hg19) ; chr2:g.174799442_174799443insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174799448dup , CM000664.2:g.174799448dup	GRCh38
NC_000002.11:g.175664176dup , CM000664.1:g.175664176dup	GRCh37
NC_000002.10:g.175372422dup	NCBI36
NG_012642.1:g.211000dup
NG_012642.2:g.211000dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000295497.13:c.*673dup	ENSP00000295497.7:n.*673dup
ENST00000295497.12:c.*673dup	ENSP00000295497.7:n.*673dup
ENST00000409900.9:c.*673dup MANE Select	ENSP00000386741.4:n.*673dup
ENST00000443238.6:c.*673dup	ENSP00000409798.2:n.*673dup
ENST00000652036.1:c.*673dup	ENSP00000499139.1:n.*673dup
ENST00000409900.7:c.*673dup	ENSP00000386741.3:n.*673dup
NM_001025201.3:c.*673dup	NP_001020372.2:n.*673dup
NM_001206602.1:c.*673dup	NP_001193531.1:n.*673dup
NM_001822.5:c.*673dup	NP_001813.1:n.*673dup
NR_038133.1:n.1919dup
NM_001025201.4:c.*673dup	NP_001020372.2:n.*673dup
NM_001206602.2:c.*673dup	NP_001193531.1:n.*673dup
NM_001371513.1:c.*673dup	NP_001358442.1:n.*673dup
NM_001371514.1:c.*673dup	NP_001358443.1:n.*673dup
NM_001822.7:c.*673dup MANE Select	NP_001813.1:n.*673dup
NR_038133.2:n.1921dup