Canonical Allele Identifier: CA13418968

Gene: FADS2

Linked Data

• dbSNP Id: rs174601
• gnomAD v2: 11-61623140-C-T
• gnomAD v3: 11-61855668-C-T
• gnomAD v4: 11-61855668-C-T
• MyVariant Identifiers: chr11:g.61623140C>T (hg19) ; chr11:g.61855668C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61855668C>T , CM000673.2:g.61855668C>T	GRCh38
NC_000011.9:g.61623140C>T , CM000673.1:g.61623140C>T	GRCh37
NC_000011.8:g.61379716C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000278840.9:c.745-1343C>T MANE Select	ENSP00000278840.4:n.745-1343C>T
ENST00000257261.10:c.679-1343C>T	ENSP00000257261.6:n.679-1343C>T
ENST00000278840.8:c.745-1343C>T	ENSP00000278840.4:n.745-1343C>T
ENST00000355484.3:c.43-1343C>T	ENSP00000437965.1:n.43-1343C>T
ENST00000521571.6:c.43-1343C>T	ENSP00000443867.1:n.43-1343C>T
ENST00000521849.5:c.745-1343C>T	ENSP00000431091.1:n.745-1343C>T
ENST00000522056.5:c.652-1343C>T	ENSP00000429500.1:n.652-1343C>T
ENST00000523235.5:n.1482C>T
NM_001281501.1:c.679-1343C>T	NP_001268430.1:n.679-1343C>T
NM_001281502.1:c.652-1343C>T	NP_001268431.1:n.652-1343C>T
NM_004265.3:c.745-1343C>T	NP_004256.1:n.745-1343C>T
NM_004265.4:c.745-1343C>T MANE Select	NP_004256.1:n.745-1343C>T