Canonical Allele Identifier: CA3163883

Gene: F11

Linked Data

• ClinVar Variation Id: 626976
• ClinVar RCV Id: RCV000851662
• dbSNP Id: rs375440170
• ExAC: 4:187201717 T / C
• gnomAD v2: 4-187201717-T-C
• gnomAD v3: 4-186280563-T-C
• gnomAD v4: 4-186280563-T-C
• MyVariant Identifiers: chr4:g.187201717T>C (hg19) ; chr4:g.186280563T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186280563T>C , CM000666.2:g.186280563T>C	GRCh38
NC_000004.11:g.187201717T>C , CM000666.1:g.187201717T>C	GRCh37
NC_000004.10:g.187438711T>C	NCBI36
NG_008051.1:g.19600T>C , LRG_583:g.19600T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.1118T>C MANE Select	ENSP00000384957.2:p.Leu373Ser
ENST00000264692.8:c.956T>C	ENSP00000264692.5:p.Leu319Ser
ENST00000403665.6:c.1118T>C	ENSP00000384957.2:p.Leu373Ser
ENST00000452239.1:c.565T>C
NM_000128.3:c.1118T>C , LRG_583t1:c.1118T>C	NP_000119.1:p.Leu373Ser
XM_005262821.2:c.1121T>C	XP_005262878.1:p.Leu374Ser
XM_005262822.2:c.1121T>C	XP_005262879.1:p.Leu374Ser
XM_005262823.2:c.851T>C	XP_005262880.1:p.Leu284Ser
XM_005262824.1:c.1121T>C	XP_005262881.1:p.Leu374Ser
XM_006714137.1:c.1073T>C	XP_006714200.1:p.Leu358Ser
XR_938706.1:n.1473T>C
XR_938707.1:n.1473T>C
XM_005262821.4:c.1121T>C	XP_005262878.1:p.Leu374Ser
XM_005262822.4:c.1121T>C	XP_005262879.1:p.Leu374Ser
XM_005262823.4:c.851T>C	XP_005262880.1:p.Leu284Ser
XM_006714137.3:c.1073T>C	XP_006714200.1:p.Leu358Ser
XM_017007884.2:c.1121T>C	XP_016863373.1:p.Leu374Ser
XM_017007885.2:c.1121T>C	XP_016863374.1:p.Leu374Ser
XM_017007886.2:c.1118T>C	XP_016863375.1:p.Leu373Ser
XR_001741172.2:n.1539T>C
NM_000128.4:c.1118T>C MANE Select	NP_000119.1:p.Leu373Ser