Canonical Allele Identifier: CA358943742

Gene: F11

Linked Data

• ClinVar Variation Id: 556268
• ClinVar RCV Id: RCV000672255
• dbSNP Id: rs1554083758
• gnomAD v4: 4-186285815-T-C
• COSMIC: COSM127113
• MyVariant Identifiers: chr4:g.187206969T>C (hg19) ; chr4:g.186285815T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186285815T>C , CM000666.2:g.186285815T>C	GRCh38
NC_000004.11:g.187206969T>C , CM000666.1:g.187206969T>C	GRCh37
NC_000004.10:g.187443963T>C	NCBI36
NG_008051.1:g.24852T>C , LRG_583:g.24852T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.1480+2T>C MANE Select	ENSP00000384957.2:n.1480+2T>C
ENST00000264691.4:c.176+2T>C
ENST00000264692.8:c.1318+2T>C	ENSP00000264692.5:n.1318+2T>C
ENST00000403665.6:c.1480+2T>C	ENSP00000384957.2:n.1480+2T>C
NM_000128.3:c.1480+2T>C , LRG_583t1:c.1480+2T>C	NP_000119.1:n.1480+2T>C
XM_005262821.2:c.1483+2T>C	XP_005262878.1:n.1483+2T>C
XM_005262822.2:c.1483+2T>C	XP_005262879.1:n.1483+2T>C
XM_005262823.2:c.1213+2T>C	XP_005262880.1:n.1213+2T>C
XM_005262824.1:c.1483+2T>C	XP_005262881.1:n.1483+2T>C
XM_006714137.1:c.1435+2T>C	XP_006714200.1:n.1435+2T>C
XR_938706.1:n.1888+2T>C
XR_938707.1:n.1888+2T>C
XM_005262821.4:c.1483+2T>C	XP_005262878.1:n.1483+2T>C
XM_005262822.4:c.1483+2T>C	XP_005262879.1:n.1483+2T>C
XM_005262823.4:c.1213+2T>C	XP_005262880.1:n.1213+2T>C
XM_006714137.3:c.1435+2T>C	XP_006714200.1:n.1435+2T>C
XR_001741172.2:n.1954+2T>C
NM_000128.4:c.1480+2T>C MANE Select	NP_000119.1:n.1480+2T>C