Canonical Allele Identifier: CA394136579

Gene: CHTF18

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.792345G>A , CM000678.2:g.792345G>A	GRCh38
NC_000016.9:g.842345G>A , CM000678.1:g.842345G>A	GRCh37
NC_000016.8:g.782346G>A	NCBI36
NG_047098.1:g.1043C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262315.14:c.1324G>A MANE Select	ENSP00000262315.9:p.Val442Met
ENST00000262315.13:c.1324G>A	ENSP00000262315.9:p.Val442Met
ENST00000317063.10:c.1324G>A	ENSP00000313029.7:p.Val442Met
ENST00000440239.5:c.1327G>A	ENSP00000399111.1:p.Val443Met
ENST00000455171.6:c.1408G>A	ENSP00000406252.2:p.Val470Met
ENST00000464728.5:n.2376G>A
ENST00000471202.5:n.2793G>A
ENST00000565787.1:n.356G>A
ENST00000569270.5:c.425-94G>A
ENST00000631357.2:c.1909G>A	ENSP00000486314.1:p.Val637Met
NM_022092.2:c.1324G>A	NP_071375.1:p.Val442Met
XM_005255470.1:c.976G>A	XP_005255527.1:p.Val326Met
XM_005255471.2:c.1408G>A	XP_005255528.1:p.Val470Met
XM_005255472.1:c.70G>A	XP_005255529.1:p.Val24Met
XM_011522572.1:c.1327G>A	XP_011520874.1:p.Val443Met
XM_011522573.1:c.70G>A	XP_011520875.1:p.Val24Met
XM_005255471.3:c.1408G>A	XP_005255528.1:p.Val470Met
XM_017023532.1:c.1261G>A	XP_016879021.1:p.Val421Met
XM_017023533.1:c.1327G>A	XP_016879022.1:p.Val443Met
XM_017023534.1:c.976G>A	XP_016879023.1:p.Val326Met
NM_022092.3:c.1324G>A MANE Select	NP_071375.1:p.Val442Met