Canonical Allele Identifier: CA3164015

Gene: F11 F11-AS1

Linked Data

• dbSNP Id: rs761254473
• ExAC: 4:187207588 C / G
• gnomAD v2: 4-187207588-C-G
• gnomAD v4: 4-186286434-C-G
• MyVariant Identifiers: chr4:g.187207588C>G (hg19) ; chr4:g.186286434C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186286434C>G , CM000666.2:g.186286434C>G	GRCh38
NC_000004.11:g.187207588C>G , CM000666.1:g.187207588C>G	GRCh37
NC_000004.10:g.187444582C>G	NCBI36
NG_008051.1:g.25471C>G , LRG_583:g.25471C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.1500C>G (F11) MANE Select	ENSP00000384957.2:p.Cys500Trp
ENST00000264691.4:c.176+621C>G (F11)
ENST00000264692.8:c.1338C>G (F11)	ENSP00000264692.5:p.Cys446Trp
ENST00000403665.6:c.1500C>G (F11)	ENSP00000384957.2:p.Cys500Trp
NM_000128.3:c.1500C>G , LRG_583t1:c.1500C>G (F11)	NP_000119.1:p.Cys500Trp
NR_033900.1:n.1067-168G>C (F11-AS1)
XM_005262821.2:c.1503C>G (F11)	XP_005262878.1:p.Cys501Trp
XM_005262822.2:c.1483+621C>G (F11)	XP_005262879.1:n.1483+621C>G
XM_005262823.2:c.1233C>G (F11)	XP_005262880.1:p.Cys411Trp
XM_005262824.1:c.1484-112C>G (F11)	XP_005262881.1:n.1484-112C>G
XM_006714137.1:c.1455C>G (F11)	XP_006714200.1:p.Cys485Trp
XR_938706.1:n.1908C>G (F11)
XR_938707.1:n.1888+621C>G (F11)
XM_005262821.4:c.1503C>G (F11)	XP_005262878.1:p.Cys501Trp
XM_005262822.4:c.1483+621C>G (F11)	XP_005262879.1:n.1483+621C>G
XM_005262823.4:c.1233C>G (F11)	XP_005262880.1:p.Cys411Trp
XM_006714137.3:c.1455C>G (F11)	XP_006714200.1:p.Cys485Trp
XR_001741172.2:n.1974C>G (F11)
NM_000128.4:c.1500C>G (F11) MANE Select	NP_000119.1:p.Cys500Trp