Canonical Allele Identifier: CA3163922

Gene: F11

Linked Data

• dbSNP Id: rs759783254
• ExAC: 4:187205318 T / G
• gnomAD v2: 4-187205318-T-G
• gnomAD v4: 4-186284164-T-G
• MyVariant Identifiers: chr4:g.187205318T>G (hg19) ; chr4:g.186284164T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186284164T>G , CM000666.2:g.186284164T>G	GRCh38
NC_000004.11:g.187205318T>G , CM000666.1:g.187205318T>G	GRCh37
NC_000004.10:g.187442312T>G	NCBI36
NG_008051.1:g.23201T>G , LRG_583:g.23201T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.1208T>G MANE Select	ENSP00000384957.2:p.Val403Gly
ENST00000264692.8:c.1046T>G	ENSP00000264692.5:p.Val349Gly
ENST00000403665.6:c.1208T>G	ENSP00000384957.2:p.Val403Gly
NM_000128.3:c.1208T>G , LRG_583t1:c.1208T>G	NP_000119.1:p.Val403Gly
XM_005262821.2:c.1211T>G	XP_005262878.1:p.Val404Gly
XM_005262822.2:c.1211T>G	XP_005262879.1:p.Val404Gly
XM_005262823.2:c.941T>G	XP_005262880.1:p.Val314Gly
XM_005262824.1:c.1211T>G	XP_005262881.1:p.Val404Gly
XM_006714137.1:c.1163T>G	XP_006714200.1:p.Val388Gly
XR_938706.1:n.1616T>G
XR_938707.1:n.1616T>G
XM_005262821.4:c.1211T>G	XP_005262878.1:p.Val404Gly
XM_005262822.4:c.1211T>G	XP_005262879.1:p.Val404Gly
XM_005262823.4:c.941T>G	XP_005262880.1:p.Val314Gly
XM_006714137.3:c.1163T>G	XP_006714200.1:p.Val388Gly
XM_017007884.2:c.*2180T>G	XP_016863373.1:n.*2180T>G
XM_017007885.2:c.*76T>G	XP_016863374.1:n.*76T>G
XR_001741172.2:n.1682T>G
NM_000128.4:c.1208T>G MANE Select	NP_000119.1:p.Val403Gly