Canonical Allele Identifier: CA3163970

Gene: F11

Linked Data

• dbSNP Id: rs752018979
• ExAC: 4:187206853 G / C
• gnomAD v2: 4-187206853-G-C
• gnomAD v4: 4-186285699-G-C
• MyVariant Identifiers: chr4:g.187206853G>C (hg19) ; chr4:g.186285699G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186285699G>C , CM000666.2:g.186285699G>C	GRCh38
NC_000004.11:g.187206853G>C , CM000666.1:g.187206853G>C	GRCh37
NC_000004.10:g.187443847G>C	NCBI36
NG_008051.1:g.24736G>C , LRG_583:g.24736G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000403665.7:c.1366G>C MANE Select	ENSP00000384957.2:p.Glu456Gln
ENST00000264691.4:c.62G>C
ENST00000264692.8:c.1204G>C	ENSP00000264692.5:p.Glu402Gln
ENST00000403665.6:c.1366G>C	ENSP00000384957.2:p.Glu456Gln
NM_000128.3:c.1366G>C , LRG_583t1:c.1366G>C	NP_000119.1:p.Glu456Gln
XM_005262821.2:c.1369G>C	XP_005262878.1:p.Glu457Gln
XM_005262822.2:c.1369G>C	XP_005262879.1:p.Glu457Gln
XM_005262823.2:c.1099G>C	XP_005262880.1:p.Glu367Gln
XM_005262824.1:c.1369G>C	XP_005262881.1:p.Glu457Gln
XM_006714137.1:c.1321G>C	XP_006714200.1:p.Glu441Gln
XR_938706.1:n.1774G>C
XR_938707.1:n.1774G>C
XM_005262821.4:c.1369G>C	XP_005262878.1:p.Glu457Gln
XM_005262822.4:c.1369G>C	XP_005262879.1:p.Glu457Gln
XM_005262823.4:c.1099G>C	XP_005262880.1:p.Glu367Gln
XM_006714137.3:c.1321G>C	XP_006714200.1:p.Glu441Gln
XR_001741172.2:n.1840G>C
NM_000128.4:c.1366G>C MANE Select	NP_000119.1:p.Glu456Gln