Canonical Allele Identifier: CA3163725

Gene: F11

Linked Data

• dbSNP Id: rs750293726
• ExAC: 4:187197378 C / A
• gnomAD v2: 4-187197378-C-A
• gnomAD v4: 4-186276224-C-A
• MyVariant Identifiers: chr4:g.187197378C>A (hg19) ; chr4:g.186276224C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186276224C>A , CM000666.2:g.186276224C>A	GRCh38
NC_000004.11:g.187197378C>A , CM000666.1:g.187197378C>A	GRCh37
NC_000004.10:g.187434372C>A	NCBI36
NG_008051.1:g.15261C>A , LRG_583:g.15261C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000403665.7:c.596-7C>A MANE Select	ENSP00000384957.2:n.596-7C>A
ENST00000264692.8:c.434-7C>A	ENSP00000264692.5:n.434-7C>A
ENST00000403665.6:c.596-7C>A	ENSP00000384957.2:n.596-7C>A
ENST00000452239.1:c.43-7C>A
NM_000128.3:c.596-7C>A , LRG_583t1:c.596-7C>A	NP_000119.1:n.596-7C>A
XM_005262821.2:c.596-7C>A	XP_005262878.1:n.596-7C>A
XM_005262822.2:c.596-7C>A	XP_005262879.1:n.596-7C>A
XM_005262823.2:c.485+1949C>A	XP_005262880.1:n.485+1949C>A
XM_005262824.1:c.596-7C>A	XP_005262881.1:n.596-7C>A
XM_006714137.1:c.596-7C>A	XP_006714200.1:n.596-7C>A
XR_938706.1:n.948-7C>A
XR_938707.1:n.948-7C>A
XM_005262821.4:c.596-7C>A	XP_005262878.1:n.596-7C>A
XM_005262822.4:c.596-7C>A	XP_005262879.1:n.596-7C>A
XM_005262823.4:c.485+1949C>A	XP_005262880.1:n.485+1949C>A
XM_006714137.3:c.596-7C>A	XP_006714200.1:n.596-7C>A
XM_017007884.2:c.596-7C>A	XP_016863373.1:n.596-7C>A
XM_017007885.2:c.596-7C>A	XP_016863374.1:n.596-7C>A
XM_017007886.2:c.596-7C>A	XP_016863375.1:n.596-7C>A
XR_001741172.2:n.929-7C>A
NM_000128.4:c.596-7C>A MANE Select	NP_000119.1:n.596-7C>A