Canonical Allele Identifier: CA969023422

Gene: CHP1

Linked Data

• dbSNP Id: rs2047490929
• gnomAD v3: 15-41271770-A-G
• gnomAD v4: 15-41271770-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.41271770A>G , CM000677.2:g.41271770A>G	GRCh38
NC_000015.9:g.41563968A>G , CM000677.1:g.41563968A>G	GRCh37
NC_000015.8:g.39351260A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334660.10:c.411+1152A>G MANE Select	ENSP00000335632.5:n.411+1152A>G
ENST00000334660.9:c.411+1152A>G	ENSP00000335632.5:n.411+1152A>G
ENST00000392151.6:c.350-6997A>G	ENSP00000440490.1:n.350-6997A>G
ENST00000558351.5:n.543+1152A>G
ENST00000560397.5:c.411+1152A>G	ENSP00000454007.1:n.411+1152A>G
ENST00000560411.5:c.*176+1152A>G	ENSP00000453375.1:n.*176+1152A>G
ENST00000560633.1:n.399-410A>G
ENST00000560784.5:c.*110+1152A>G	ENSP00000452772.1:n.*110+1152A>G
ENST00000560965.1:c.272-410A>G
NM_007236.4:c.411+1152A>G	NP_009167.1:n.411+1152A>G
NM_007236.5:c.411+1152A>G MANE Select	NP_009167.1:n.411+1152A>G