Canonical Allele Identifier: CA358943463

Gene: F11

Linked Data

• dbSNP Id: rs778648408
• gnomAD v2: 4-187206900-G-C
• gnomAD v4: 4-186285746-G-C
• MyVariant Identifiers: chr4:g.187206900G>C (hg19) ; chr4:g.186285746G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186285746G>C , CM000666.2:g.186285746G>C	GRCh38
NC_000004.11:g.187206900G>C , CM000666.1:g.187206900G>C	GRCh37
NC_000004.10:g.187443894G>C	NCBI36
NG_008051.1:g.24783G>C , LRG_583:g.24783G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.1413G>C MANE Select	ENSP00000384957.2:p.Gln471His
ENST00000264691.4:c.109G>C
ENST00000264692.8:c.1251G>C	ENSP00000264692.5:p.Gln417His
ENST00000403665.6:c.1413G>C	ENSP00000384957.2:p.Gln471His
NM_000128.3:c.1413G>C , LRG_583t1:c.1413G>C	NP_000119.1:p.Gln471His
XM_005262821.2:c.1416G>C	XP_005262878.1:p.Gln472His
XM_005262822.2:c.1416G>C	XP_005262879.1:p.Gln472His
XM_005262823.2:c.1146G>C	XP_005262880.1:p.Gln382His
XM_005262824.1:c.1416G>C	XP_005262881.1:p.Gln472His
XM_006714137.1:c.1368G>C	XP_006714200.1:p.Gln456His
XR_938706.1:n.1821G>C
XR_938707.1:n.1821G>C
XM_005262821.4:c.1416G>C	XP_005262878.1:p.Gln472His
XM_005262822.4:c.1416G>C	XP_005262879.1:p.Gln472His
XM_005262823.4:c.1146G>C	XP_005262880.1:p.Gln382His
XM_006714137.3:c.1368G>C	XP_006714200.1:p.Gln456His
XR_001741172.2:n.1887G>C
NM_000128.4:c.1413G>C MANE Select	NP_000119.1:p.Gln471His