Canonical Allele Identifier: CA6373272

Gene: ACAD8

Linked Data

• ClinVar Variation Id: 1270954
• ClinVar RCV Id: RCV001680475
• dbSNP Id: rs71486998
• ExAC: 11:134132680 G / C
• gnomAD v2: 11-134132680-G-C
• gnomAD v3: 11-134262786-G-C
• gnomAD v4: 11-134262786-G-C
• MyVariant Identifiers: chr11:g.134132680G>C (hg19) ; chr11:g.134262786G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262786G>C , CM000673.2:g.134262786G>C	GRCh38
NC_000011.9:g.134132680G>C , CM000673.1:g.134132680G>C	GRCh37
NC_000011.8:g.133637890G>C	NCBI36
NG_015842.1:g.14247G>C , LRG_448:g.14247G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1195+164G>C MANE Select	ENSP00000281182.5:n.1195+164G>C
ENST00000281182.8:c.1195+164G>C	ENSP00000281182.4:n.1195+164G>C
ENST00000374752.6:c.814+164G>C	ENSP00000363884.4:n.814+164G>C
ENST00000524502.2:n.212G>C
ENST00000526026.5:c.*901G>C	ENSP00000431532.1:n.*901G>C
ENST00000531338.5:n.1603G>C
ENST00000533387.5:n.2254+164G>C
NM_014384.2:c.1195+164G>C , LRG_448t1:c.1195+164G>C	NP_055199.1:n.1195+164G>C
XM_005271501.2:c.1212G>C	XP_005271558.1:p.Gly404=
XM_011542750.1:c.1195+164G>C	XP_011541052.1:n.1195+164G>C
XR_947819.1:n.1259+164G>C
XR_947820.1:n.1811G>C
XR_947822.1:n.1089+164G>C
XR_947823.1:n.1245+164G>C
XM_005271505.4:c.*1460+164G>C	XP_005271562.1:n.*1460+164G>C
XM_011542750.3:c.1195+164G>C	XP_011541052.1:n.1195+164G>C
XM_017017542.2:c.1195+164G>C	XP_016873031.1:n.1195+164G>C
XM_017017543.2:c.1212G>C	XP_016873032.1:p.Gly404=
XM_017017544.2:c.*164+164G>C	XP_016873033.1:n.*164+164G>C
XM_017017545.2:c.*571G>C	XP_016873034.1:n.*571G>C
XM_017017546.2:c.901+164G>C	XP_016873035.1:n.901+164G>C
XM_017017547.2:c.901+164G>C	XP_016873036.1:n.901+164G>C
XM_017017548.2:c.*1848G>C	XP_016873037.1:n.*1848G>C
XM_017017549.2:c.*1605+164G>C	XP_016873038.1:n.*1605+164G>C
XM_024448437.1:c.*506G>C	XP_024304205.1:n.*506G>C
XM_024448438.1:c.814+164G>C	XP_024304206.1:n.814+164G>C
NM_014384.3:c.1195+164G>C MANE Select	NP_055199.1:n.1195+164G>C