Canonical Allele Identifier: CA537762511

Gene: CHN1

Linked Data

• dbSNP Id: rs1236409953
• gnomAD v2: 2-175664648-G-A
• gnomAD v3: 2-174799920-G-A
• gnomAD v4: 2-174799920-G-A
• MyVariant Identifiers: chr2:g.175664648G>A (hg19) ; chr2:g.174799920G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174799920G>A , CM000664.2:g.174799920G>A	GRCh38
NC_000002.11:g.175664648G>A , CM000664.1:g.175664648G>A	GRCh37
NC_000002.10:g.175372894G>A	NCBI36
NG_012642.1:g.210523C>T
NG_012642.2:g.210523C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.*196C>T	ENSP00000295497.7:n.*196C>T
ENST00000295497.12:c.*196C>T	ENSP00000295497.7:n.*196C>T
ENST00000409900.9:c.*196C>T MANE Select	ENSP00000386741.4:n.*196C>T
ENST00000413882.6:c.*196C>T	ENSP00000410496.2:n.*196C>T
ENST00000443238.6:c.*196C>T	ENSP00000409798.2:n.*196C>T
ENST00000488080.6:n.1219C>T
ENST00000650731.1:c.*196C>T	ENSP00000499146.1:n.*196C>T
ENST00000650938.1:c.962C>T
ENST00000651246.1:c.*196C>T	ENSP00000498484.1:n.*196C>T
ENST00000651501.1:c.*1023C>T	ENSP00000498894.1:n.*1023C>T
ENST00000651717.1:c.*852C>T	ENSP00000499124.1:n.*852C>T
ENST00000652036.1:c.*196C>T	ENSP00000499139.1:n.*196C>T
ENST00000295497.11:c.*196C>T	ENSP00000295497.7:n.*196C>T
ENST00000409597.5:c.*196C>T	ENSP00000386469.1:n.*196C>T
ENST00000409900.7:c.*196C>T	ENSP00000386741.3:n.*196C>T
ENST00000488080.5:n.1427C>T
ENST00000492964.1:n.719C>T
NM_001025201.3:c.*196C>T	NP_001020372.2:n.*196C>T
NM_001206602.1:c.*196C>T	NP_001193531.1:n.*196C>T
NM_001822.5:c.*196C>T	NP_001813.1:n.*196C>T
NR_038133.1:n.1442C>T
NM_001025201.4:c.*196C>T	NP_001020372.2:n.*196C>T
NM_001206602.2:c.*196C>T	NP_001193531.1:n.*196C>T
NM_001371513.1:c.*196C>T	NP_001358442.1:n.*196C>T
NM_001371514.1:c.*196C>T	NP_001358443.1:n.*196C>T
NM_001822.7:c.*196C>T MANE Select	NP_001813.1:n.*196C>T
NR_038133.2:n.1444C>T