Canonical Allele Identifier: CA712814927

Gene: CHP1

Linked Data

• dbSNP Id: rs1320667233
• gnomAD v3: 15-41271796-G-C
• gnomAD v4: 15-41271796-G-C
• MyVariant Identifiers: chr15:g.41563994G>C (hg19) ; chr15:g.41271796G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.41271796G>C , CM000677.2:g.41271796G>C	GRCh38
NC_000015.9:g.41563994G>C , CM000677.1:g.41563994G>C	GRCh37
NC_000015.8:g.39351286G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334660.10:c.411+1178G>C MANE Select	ENSP00000335632.5:n.411+1178G>C
ENST00000334660.9:c.411+1178G>C	ENSP00000335632.5:n.411+1178G>C
ENST00000392151.6:c.350-6971G>C	ENSP00000440490.1:n.350-6971G>C
ENST00000558351.5:n.543+1178G>C
ENST00000560397.5:c.411+1178G>C	ENSP00000454007.1:n.411+1178G>C
ENST00000560411.5:c.*176+1178G>C	ENSP00000453375.1:n.*176+1178G>C
ENST00000560633.1:n.399-384G>C
ENST00000560784.5:c.*110+1178G>C	ENSP00000452772.1:n.*110+1178G>C
ENST00000560965.1:c.272-384G>C
NM_007236.4:c.411+1178G>C	NP_009167.1:n.411+1178G>C
NM_007236.5:c.411+1178G>C MANE Select	NP_009167.1:n.411+1178G>C