Canonical Allele Identifier: CA358959131

Gene: F11

Linked Data

• dbSNP Id: rs1369327019
• gnomAD v2: 4-187197437-C-G
• MyVariant Identifiers: chr4:g.187197437C>G (hg19) ; chr4:g.186276283C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186276283C>G , CM000666.2:g.186276283C>G	GRCh38
NC_000004.11:g.187197437C>G , CM000666.1:g.187197437C>G	GRCh37
NC_000004.10:g.187434431C>G	NCBI36
NG_008051.1:g.15320C>G , LRG_583:g.15320C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.648C>G MANE Select	ENSP00000384957.2:p.Asp216Glu
ENST00000264692.8:c.486C>G	ENSP00000264692.5:p.Asp162Glu
ENST00000403665.6:c.648C>G	ENSP00000384957.2:p.Asp216Glu
ENST00000452239.1:c.95C>G
NM_000128.3:c.648C>G , LRG_583t1:c.648C>G	NP_000119.1:p.Asp216Glu
XM_005262821.2:c.648C>G	XP_005262878.1:p.Asp216Glu
XM_005262822.2:c.648C>G	XP_005262879.1:p.Asp216Glu
XM_005262823.2:c.485+2008C>G	XP_005262880.1:n.485+2008C>G
XM_005262824.1:c.648C>G	XP_005262881.1:p.Asp216Glu
XM_006714137.1:c.648C>G	XP_006714200.1:p.Asp216Glu
XR_938706.1:n.1000C>G
XR_938707.1:n.1000C>G
XM_005262821.4:c.648C>G	XP_005262878.1:p.Asp216Glu
XM_005262822.4:c.648C>G	XP_005262879.1:p.Asp216Glu
XM_005262823.4:c.485+2008C>G	XP_005262880.1:n.485+2008C>G
XM_006714137.3:c.648C>G	XP_006714200.1:p.Asp216Glu
XM_017007884.2:c.648C>G	XP_016863373.1:p.Asp216Glu
XM_017007885.2:c.648C>G	XP_016863374.1:p.Asp216Glu
XM_017007886.2:c.648C>G	XP_016863375.1:p.Asp216Glu
XR_001741172.2:n.981C>G
NM_000128.4:c.648C>G MANE Select	NP_000119.1:p.Asp216Glu