Canonical Allele Identifier: CA222931621

Gene: FADS3

Linked Data

• dbSNP Id: rs546575462
• gnomAD v2: 11-61655219-C-T
• gnomAD v3: 11-61887747-C-T
• gnomAD v4: 11-61887747-C-T
• MyVariant Identifiers: chr11:g.61655219C>T (hg19) ; chr11:g.61887747C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61887747C>T , CM000673.2:g.61887747C>T	GRCh38
NC_000011.9:g.61655219C>T , CM000673.1:g.61655219C>T	GRCh37
NC_000011.8:g.61411795C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278829.7:c.213+3422G>A MANE Select	ENSP00000278829.2:n.213+3422G>A
ENST00000278829.6:c.213+3422G>A	ENSP00000278829.2:n.213+3422G>A
ENST00000414624.6:n.286+3422G>A
ENST00000525588.5:c.213+3422G>A	ENSP00000432206.1:n.213+3422G>A
ENST00000527697.5:c.-160+4112G>A	ENSP00000431533.1:n.-160+4112G>A
NM_021727.4:c.213+3422G>A	NP_068373.1:n.213+3422G>A
XM_011545023.1:c.213+3422G>A	XP_011543325.1:n.213+3422G>A
XM_011545023.2:c.213+3422G>A	XP_011543325.1:n.213+3422G>A
XM_017017723.1:c.351+4112G>A	XP_016873212.1:n.351+4112G>A
XM_017017724.1:c.351+4112G>A	XP_016873213.1:n.351+4112G>A
XR_001747866.1:n.366+4112G>A
XR_001747867.1:n.366+4112G>A
XR_001747868.1:n.377+3422G>A
XR_001747869.1:n.377+3422G>A
NM_021727.5:c.213+3422G>A MANE Select	NP_068373.1:n.213+3422G>A