Canonical Allele Identifier: CA358958589

Gene: F11

Linked Data

• dbSNP Id: rs1219071481
• gnomAD v2: 4-187195356-G-C
• gnomAD v4: 4-186274202-G-C
• MyVariant Identifiers: chr4:g.187195356G>C (hg19) ; chr4:g.186274202G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186274202G>C , CM000666.2:g.186274202G>C	GRCh38
NC_000004.11:g.187195356G>C , CM000666.1:g.187195356G>C	GRCh37
NC_000004.10:g.187432350G>C	NCBI36
NG_008051.1:g.13239G>C , LRG_583:g.13239G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000403665.7:c.412G>C MANE Select	ENSP00000384957.2:p.Glu138Gln
ENST00000264692.8:c.323+1027G>C	ENSP00000264692.5:n.323+1027G>C
ENST00000403665.6:c.412G>C	ENSP00000384957.2:p.Glu138Gln
ENST00000492972.6:c.412G>C	ENSP00000424479.1:p.Glu138Gln
ENST00000514715.1:n.284G>C
NM_000128.3:c.412G>C , LRG_583t1:c.412G>C	NP_000119.1:p.Glu138Gln
XM_005262821.2:c.412G>C	XP_005262878.1:p.Glu138Gln
XM_005262822.2:c.412G>C	XP_005262879.1:p.Glu138Gln
XM_005262823.2:c.412G>C	XP_005262880.1:p.Glu138Gln
XM_005262824.1:c.412G>C	XP_005262881.1:p.Glu138Gln
XM_006714137.1:c.412G>C	XP_006714200.1:p.Glu138Gln
XR_938706.1:n.764G>C
XR_938707.1:n.764G>C
NM_001354804.1:c.412G>C	NP_001341733.1:p.Glu138Gln
XM_005262821.4:c.412G>C	XP_005262878.1:p.Glu138Gln
XM_005262822.4:c.412G>C	XP_005262879.1:p.Glu138Gln
XM_005262823.4:c.412G>C	XP_005262880.1:p.Glu138Gln
XM_006714137.3:c.412G>C	XP_006714200.1:p.Glu138Gln
XM_017007884.2:c.412G>C	XP_016863373.1:p.Glu138Gln
XM_017007885.2:c.412G>C	XP_016863374.1:p.Glu138Gln
XM_017007886.2:c.412G>C	XP_016863375.1:p.Glu138Gln
XR_001741172.2:n.745G>C
NM_000128.4:c.412G>C MANE Select	NP_000119.1:p.Glu138Gln
NM_001354804.2:c.412G>C	NP_001341733.1:p.Glu138Gln