Canonical Allele Identifier: CA442641318

Gene: F11 F11-AS1

Linked Data

• ClinVar Variation Id: 2723713
• ClinVar RCV Id: RCV003561452
• dbSNP Id: rs778179698
• gnomAD v3: 4-186288446-G-T
• gnomAD v4: 4-186288446-G-T
• MyVariant Identifiers: chr4:g.187209600G>T (hg19) ; chr4:g.186288446G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186288446G>T , CM000666.2:g.186288446G>T	GRCh38
NC_000004.11:g.187209600G>T , CM000666.1:g.187209600G>T	GRCh37
NC_000004.10:g.187446594G>T	NCBI36
NG_008051.1:g.27483G>T , LRG_583:g.27483G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000403665.7:c.1717-7G>T (F11) MANE Select	ENSP00000384957.2:n.1717-7G>T
ENST00000264691.4:c.317-7G>T (F11)
ENST00000264692.8:c.1555-7G>T (F11)	ENSP00000264692.5:n.1555-7G>T
ENST00000403665.6:c.1717-7G>T (F11)	ENSP00000384957.2:n.1717-7G>T
ENST00000503841.1:n.236-7G>T (F11)
NM_000128.3:c.1717-7G>T , LRG_583t1:c.1717-7G>T (F11)	NP_000119.1:n.1717-7G>T
NR_033900.1:n.1048C>A (F11-AS1)
XM_005262821.2:c.1720-7G>T (F11)	XP_005262878.1:n.1720-7G>T
XM_005262822.2:c.1624-7G>T (F11)	XP_005262879.1:n.1624-7G>T
XM_005262823.2:c.1450-7G>T (F11)	XP_005262880.1:n.1450-7G>T
XM_006714137.1:c.1672-7G>T (F11)	XP_006714200.1:n.1672-7G>T
XM_005262821.4:c.1720-7G>T (F11)	XP_005262878.1:n.1720-7G>T
XM_005262822.4:c.1624-7G>T (F11)	XP_005262879.1:n.1624-7G>T
XM_005262823.4:c.1450-7G>T (F11)	XP_005262880.1:n.1450-7G>T
XM_006714137.3:c.1672-7G>T (F11)	XP_006714200.1:n.1672-7G>T
NM_000128.4:c.1717-7G>T (F11) MANE Select	NP_000119.1:n.1717-7G>T