Canonical Allele Identifier: CA3163844

Gene: F11

Linked Data

• dbSNP Id: rs765930824
• ExAC: 4:187201560 T / C
• gnomAD v2: 4-187201560-T-C
• gnomAD v3: 4-186280406-T-C
• gnomAD v4: 4-186280406-T-C
• MyVariant Identifiers: chr4:g.187201560T>C (hg19) ; chr4:g.186280406T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186280406T>C , CM000666.2:g.186280406T>C	GRCh38
NC_000004.11:g.187201560T>C , CM000666.1:g.187201560T>C	GRCh37
NC_000004.10:g.187438554T>C	NCBI36
NG_008051.1:g.19443T>C , LRG_583:g.19443T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.1028+21T>C MANE Select	ENSP00000384957.2:n.1028+21T>C
ENST00000264692.8:c.866+21T>C	ENSP00000264692.5:n.866+21T>C
ENST00000403665.6:c.1028+21T>C	ENSP00000384957.2:n.1028+21T>C
ENST00000452239.1:c.475+21T>C
NM_000128.3:c.1028+21T>C , LRG_583t1:c.1028+21T>C	NP_000119.1:n.1028+21T>C
XM_005262821.2:c.1028+21T>C	XP_005262878.1:n.1028+21T>C
XM_005262822.2:c.1028+21T>C	XP_005262879.1:n.1028+21T>C
XM_005262823.2:c.758+21T>C	XP_005262880.1:n.758+21T>C
XM_005262824.1:c.1028+21T>C	XP_005262881.1:n.1028+21T>C
XM_006714137.1:c.980+21T>C	XP_006714200.1:n.980+21T>C
XR_938706.1:n.1380+21T>C
XR_938707.1:n.1380+21T>C
XM_005262821.4:c.1028+21T>C	XP_005262878.1:n.1028+21T>C
XM_005262822.4:c.1028+21T>C	XP_005262879.1:n.1028+21T>C
XM_005262823.4:c.758+21T>C	XP_005262880.1:n.758+21T>C
XM_006714137.3:c.980+21T>C	XP_006714200.1:n.980+21T>C
XM_017007884.2:c.1028+21T>C	XP_016863373.1:n.1028+21T>C
XM_017007885.2:c.1028+21T>C	XP_016863374.1:n.1028+21T>C
XM_017007886.2:c.1028+21T>C	XP_016863375.1:n.1028+21T>C
XR_001741172.2:n.1382T>C
NM_000128.4:c.1028+21T>C MANE Select	NP_000119.1:n.1028+21T>C