Canonical Allele Identifier: CA914513299

Gene: CHN1

Linked Data

• dbSNP Id: rs1558927231
• gnomAD v2: 2-175664179-C-T
• gnomAD v3: 2-174799451-C-T
• gnomAD v4: 2-174799451-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174799451C>T , CM000664.2:g.174799451C>T	GRCh38
NC_000002.11:g.175664179C>T , CM000664.1:g.175664179C>T	GRCh37
NC_000002.10:g.175372425C>T	NCBI36
NG_012642.1:g.210992G>A
NG_012642.2:g.210992G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000295497.13:c.*665G>A	ENSP00000295497.7:n.*665G>A
ENST00000295497.12:c.*665G>A	ENSP00000295497.7:n.*665G>A
ENST00000409900.9:c.*665G>A MANE Select	ENSP00000386741.4:n.*665G>A
ENST00000443238.6:c.*665G>A	ENSP00000409798.2:n.*665G>A
ENST00000652036.1:c.*665G>A	ENSP00000499139.1:n.*665G>A
ENST00000409900.7:c.*665G>A	ENSP00000386741.3:n.*665G>A
NM_001025201.3:c.*665G>A	NP_001020372.2:n.*665G>A
NM_001206602.1:c.*665G>A	NP_001193531.1:n.*665G>A
NM_001822.5:c.*665G>A	NP_001813.1:n.*665G>A
NR_038133.1:n.1911G>A
NM_001025201.4:c.*665G>A	NP_001020372.2:n.*665G>A
NM_001206602.2:c.*665G>A	NP_001193531.1:n.*665G>A
NM_001371513.1:c.*665G>A	NP_001358442.1:n.*665G>A
NM_001371514.1:c.*665G>A	NP_001358443.1:n.*665G>A
NM_001822.7:c.*665G>A MANE Select	NP_001813.1:n.*665G>A
NR_038133.2:n.1913G>A