Canonical Allele Identifier: CA3163878

Gene: F11

Linked Data

• ClinVar Variation Id: 551619
• ClinVar RCV Id: RCV000666732 ; RCV003330881 ; RCV003558488
• dbSNP Id: rs748926718
• ExAC: 4:187201702 G / C
• gnomAD v2: 4-187201702-G-C
• gnomAD v3: 4-186280548-G-C
• gnomAD v4: 4-186280548-G-C
• MyVariant Identifiers: chr4:g.187201702G>C (hg19) ; chr4:g.186280548G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186280548G>C , CM000666.2:g.186280548G>C	GRCh38
NC_000004.11:g.187201702G>C , CM000666.1:g.187201702G>C	GRCh37
NC_000004.10:g.187438696G>C	NCBI36
NG_008051.1:g.19585G>C , LRG_583:g.19585G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.1103G>C MANE Select	ENSP00000384957.2:p.Gly368Ala
ENST00000264692.8:c.941G>C	ENSP00000264692.5:p.Gly314Ala
ENST00000403665.6:c.1103G>C	ENSP00000384957.2:p.Gly368Ala
ENST00000452239.1:c.550G>C
NM_000128.3:c.1103G>C , LRG_583t1:c.1103G>C	NP_000119.1:p.Gly368Ala
XM_005262821.2:c.1106G>C	XP_005262878.1:p.Gly369Ala
XM_005262822.2:c.1106G>C	XP_005262879.1:p.Gly369Ala
XM_005262823.2:c.836G>C	XP_005262880.1:p.Gly279Ala
XM_005262824.1:c.1106G>C	XP_005262881.1:p.Gly369Ala
XM_006714137.1:c.1058G>C	XP_006714200.1:p.Gly353Ala
XR_938706.1:n.1458G>C
XR_938707.1:n.1458G>C
XM_005262821.4:c.1106G>C	XP_005262878.1:p.Gly369Ala
XM_005262822.4:c.1106G>C	XP_005262879.1:p.Gly369Ala
XM_005262823.4:c.836G>C	XP_005262880.1:p.Gly279Ala
XM_006714137.3:c.1058G>C	XP_006714200.1:p.Gly353Ala
XM_017007884.2:c.1106G>C	XP_016863373.1:p.Gly369Ala
XM_017007885.2:c.1106G>C	XP_016863374.1:p.Gly369Ala
XM_017007886.2:c.1103G>C	XP_016863375.1:p.Gly368Ala
XR_001741172.2:n.1524G>C
NM_000128.4:c.1103G>C MANE Select	NP_000119.1:p.Gly368Ala