Canonical Allele Identifier: CA557396066

Gene: F11

Linked Data

• dbSNP Id: rs143650122
• gnomAD v2: 4-187195476-G-T
• gnomAD v3: 4-186274322-G-T
• gnomAD v4: 4-186274322-G-T
• MyVariant Identifiers: chr4:g.187195476G>T (hg19) ; chr4:g.186274322G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186274322G>T , CM000666.2:g.186274322G>T	GRCh38
NC_000004.11:g.187195476G>T , CM000666.1:g.187195476G>T	GRCh37
NC_000004.10:g.187432470G>T	NCBI36
NG_008051.1:g.13359G>T , LRG_583:g.13359G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.485+47G>T MANE Select	ENSP00000384957.2:n.485+47G>T
ENST00000264692.8:c.323+1147G>T	ENSP00000264692.5:n.323+1147G>T
ENST00000403665.6:c.485+47G>T	ENSP00000384957.2:n.485+47G>T
ENST00000492972.6:c.*43G>T	ENSP00000424479.1:n.*43G>T
ENST00000514715.1:n.404G>T
NM_000128.3:c.485+47G>T , LRG_583t1:c.485+47G>T	NP_000119.1:n.485+47G>T
XM_005262821.2:c.485+47G>T	XP_005262878.1:n.485+47G>T
XM_005262822.2:c.485+47G>T	XP_005262879.1:n.485+47G>T
XM_005262823.2:c.485+47G>T	XP_005262880.1:n.485+47G>T
XM_005262824.1:c.485+47G>T	XP_005262881.1:n.485+47G>T
XM_006714137.1:c.485+47G>T	XP_006714200.1:n.485+47G>T
XR_938706.1:n.837+47G>T
XR_938707.1:n.837+47G>T
NM_001354804.1:c.*43G>T	NP_001341733.1:n.*43G>T
XM_005262821.4:c.485+47G>T	XP_005262878.1:n.485+47G>T
XM_005262822.4:c.485+47G>T	XP_005262879.1:n.485+47G>T
XM_005262823.4:c.485+47G>T	XP_005262880.1:n.485+47G>T
XM_006714137.3:c.485+47G>T	XP_006714200.1:n.485+47G>T
XM_017007884.2:c.485+47G>T	XP_016863373.1:n.485+47G>T
XM_017007885.2:c.485+47G>T	XP_016863374.1:n.485+47G>T
XM_017007886.2:c.485+47G>T	XP_016863375.1:n.485+47G>T
XR_001741172.2:n.818+47G>T
NM_000128.4:c.485+47G>T MANE Select	NP_000119.1:n.485+47G>T
NM_001354804.2:c.*43G>T	NP_001341733.1:n.*43G>T