Canonical Allele Identifier: CA350681944

Gene: CHPF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219539800C>A , CM000664.2:g.219539800C>A	GRCh38
NC_000002.11:g.220404522C>A , CM000664.1:g.220404522C>A	GRCh37
NC_000002.10:g.220112766C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_024536.6:c.1911G>T MANE Select	NP_078812.3:p.Gln637His
ENST00000243776.11:c.1911G>T MANE Select	ENSP00000243776.6:p.Gln637His
NM_001195731.1:c.1425G>T	NP_001182660.1:p.Gln475His
NM_001195731.2:c.1425G>T	NP_001182660.2:p.Gln475His
NM_024536.5:c.1911G>T	NP_078812.2:p.Gln637His
ENST00000243776.10:c.1911G>T	ENSP00000243776.6:p.Gln637His
ENST00000535926.2:c.1425G>T	ENSP00000445571.1:p.Gln475His
ENST00000535926.3:c.1425G>T	ENSP00000445571.1:p.Gln475His
ENST00000688634.1:c.*1095G>T	ENSP00000509339.1:n.*1095G>T
ENST00000691864.1:c.1887G>T	ENSP00000509104.1:p.Gln629His
ENST00000693236.1:n.2458G>T
XM_011511838.1:c.1038G>T	XP_011510140.1:p.Gln346His
XM_011511838.3:c.1038G>T	XP_011510140.1:p.Gln346His