Canonical Allele Identifier: CA2172180639

Gene: CHP1

Linked Data

• dbSNP Id: rs2047491054

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.41271788A>T , CM000677.2:g.41271788A>T	GRCh38
NC_000015.9:g.41563986A>T , CM000677.1:g.41563986A>T	GRCh37
NC_000015.8:g.39351278A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334660.10:c.411+1170A>T MANE Select	ENSP00000335632.5:n.411+1170A>T
ENST00000334660.9:c.411+1170A>T	ENSP00000335632.5:n.411+1170A>T
ENST00000392151.6:c.350-6979A>T	ENSP00000440490.1:n.350-6979A>T
ENST00000558351.5:n.543+1170A>T
ENST00000560397.5:c.411+1170A>T	ENSP00000454007.1:n.411+1170A>T
ENST00000560411.5:c.*176+1170A>T	ENSP00000453375.1:n.*176+1170A>T
ENST00000560633.1:n.399-392A>T
ENST00000560784.5:c.*110+1170A>T	ENSP00000452772.1:n.*110+1170A>T
ENST00000560965.1:c.272-392A>T
NM_007236.4:c.411+1170A>T	NP_009167.1:n.411+1170A>T
NM_007236.5:c.411+1170A>T MANE Select	NP_009167.1:n.411+1170A>T