Canonical Allele Identifier: CA927857202

Gene: MARCHF8

Linked Data

• dbSNP Id: rs1030305370
• gnomAD v3: 10-45459563-C-A
• gnomAD v4: 10-45459563-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.45459563C>A , CM000672.2:g.45459563C>A	GRCh38
NC_000010.10:g.45955011C>A , CM000672.1:g.45955011C>A	GRCh37
NC_000010.9:g.45275017C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453424.7:c.1270-296G>T MANE Select	ENSP00000411848.2:n.1270-296G>T
ENST00000319836.7:c.424-296G>T	ENSP00000317087.3:n.424-296G>T
ENST00000395769.6:c.424-296G>T	ENSP00000379116.2:n.424-296G>T
ENST00000453424.6:c.1270-296G>T	ENSP00000411848.2:n.1270-296G>T
ENST00000476962.1:n.975-296G>T
NM_001002266.2:c.424-296G>T	NP_001002266.1:n.424-296G>T
NM_001282866.1:c.1270-296G>T	NP_001269795.1:n.1270-296G>T
NM_145021.5:c.424-296G>T	NP_659458.2:n.424-296G>T
XM_005271804.1:c.1270-296G>T	XP_005271861.1:n.1270-296G>T
XM_006717704.2:c.1270-296G>T	XP_006717767.1:n.1270-296G>T
XM_006717705.1:c.1270-296G>T	XP_006717768.1:n.1270-296G>T
XM_011539492.1:c.1270-296G>T	XP_011537794.1:n.1270-296G>T
XM_011539493.1:c.1270-296G>T	XP_011537795.1:n.1270-296G>T
XM_011539494.1:c.1270-296G>T	XP_011537796.1:n.1270-296G>T
XM_011539495.1:c.424-296G>T	XP_011537797.1:n.424-296G>T
XR_246519.1:n.2094+177G>T
XM_005271804.3:c.1270-296G>T	XP_005271861.1:n.1270-296G>T
XM_011539492.3:c.1270-296G>T	XP_011537794.1:n.1270-296G>T
XR_246519.3:n.2153+177G>T
NM_001282866.2:c.1270-296G>T MANE Select	NP_001269795.1:n.1270-296G>T
NM_001002266.3:c.424-296G>T	NP_001002266.1:n.424-296G>T
NM_145021.6:c.424-296G>T	NP_659458.2:n.424-296G>T
NM_001401645.1:c.1270-296G>T	NP_001388574.1:n.1270-296G>T
NM_001401646.1:c.1270-296G>T	NP_001388575.1:n.1270-296G>T