Canonical Allele Identifier: CA60837583

Gene: CHN1

Linked Data

• dbSNP Id: rs963872299
• gnomAD v2: 2-175664100-G-A
• gnomAD v3: 2-174799372-G-A
• gnomAD v4: 2-174799372-G-A
• MyVariant Identifiers: chr2:g.175664100G>A (hg19) ; chr2:g.174799372G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174799372G>A , CM000664.2:g.174799372G>A	GRCh38
NC_000002.11:g.175664100G>A , CM000664.1:g.175664100G>A	GRCh37
NC_000002.10:g.175372346G>A	NCBI36
NG_012642.1:g.211071C>T
NG_012642.2:g.211071C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.*744C>T	ENSP00000295497.7:n.*744C>T
ENST00000295497.12:c.*744C>T	ENSP00000295497.7:n.*744C>T
ENST00000409900.9:c.*744C>T MANE Select	ENSP00000386741.4:n.*744C>T
ENST00000652036.1:c.*744C>T	ENSP00000499139.1:n.*744C>T
ENST00000409900.7:c.*744C>T	ENSP00000386741.3:n.*744C>T
NM_001025201.3:c.*744C>T	NP_001020372.2:n.*744C>T
NM_001206602.1:c.*744C>T	NP_001193531.1:n.*744C>T
NM_001822.5:c.*744C>T	NP_001813.1:n.*744C>T
NR_038133.1:n.1990C>T
NM_001025201.4:c.*744C>T	NP_001020372.2:n.*744C>T
NM_001206602.2:c.*744C>T	NP_001193531.1:n.*744C>T
NM_001371513.1:c.*744C>T	NP_001358442.1:n.*744C>T
NM_001371514.1:c.*744C>T	NP_001358443.1:n.*744C>T
NM_001822.7:c.*744C>T MANE Select	NP_001813.1:n.*744C>T
NR_038133.2:n.1992C>T