Canonical Allele Identifier: CA7795003

Gene: CHTF18

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.791912G>A , CM000678.2:g.791912G>A	GRCh38
NC_000016.9:g.841912G>A , CM000678.1:g.841912G>A	GRCh37
NC_000016.8:g.781913G>A	NCBI36
NG_047098.1:g.1476C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262315.14:c.1166G>A MANE Select	ENSP00000262315.9:p.Arg389His
ENST00000262315.13:c.1166G>A	ENSP00000262315.9:p.Arg389His
ENST00000317063.10:c.1166G>A	ENSP00000313029.7:p.Arg389His
ENST00000440239.5:c.1169G>A	ENSP00000399111.1:p.Arg390His
ENST00000455171.6:c.1250G>A	ENSP00000406252.2:p.Arg417His
ENST00000464728.5:n.1943G>A
ENST00000471202.5:n.2360G>A
ENST00000565787.1:n.235-312G>A
ENST00000569270.5:c.425-527G>A
ENST00000631357.2:c.1751G>A	ENSP00000486314.1:p.Arg584His
NM_022092.2:c.1166G>A	NP_071375.1:p.Arg389His
XM_005255470.1:c.818G>A	XP_005255527.1:p.Arg273His
XM_005255471.2:c.1250G>A	XP_005255528.1:p.Arg417His
XM_005255472.1:c.-364G>A	XP_005255529.1:n.-364G>A
XM_011522572.1:c.1169G>A	XP_011520874.1:p.Arg390His
XM_011522573.1:c.-52-312G>A	XP_011520875.1:n.-52-312G>A
XM_005255471.3:c.1250G>A	XP_005255528.1:p.Arg417His
XM_017023532.1:c.1103G>A	XP_016879021.1:p.Arg368His
XM_017023533.1:c.1169G>A	XP_016879022.1:p.Arg390His
XM_017023534.1:c.818G>A	XP_016879023.1:p.Arg273His
NM_022092.3:c.1166G>A MANE Select	NP_071375.1:p.Arg389His