Canonical Allele Identifier: CA358943450

Gene: F11

Linked Data

• dbSNP Id: rs1347334885
• gnomAD v2: 4-187206898-C-T
• gnomAD v4: 4-186285744-C-T
• MyVariant Identifiers: chr4:g.187206898C>T (hg19) ; chr4:g.186285744C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186285744C>T , CM000666.2:g.186285744C>T	GRCh38
NC_000004.11:g.187206898C>T , CM000666.1:g.187206898C>T	GRCh37
NC_000004.10:g.187443892C>T	NCBI36
NG_008051.1:g.24781C>T , LRG_583:g.24781C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.1411C>T MANE Select	ENSP00000384957.2:p.Gln471Ter
ENST00000264691.4:c.107C>T
ENST00000264692.8:c.1249C>T	ENSP00000264692.5:p.Gln417Ter
ENST00000403665.6:c.1411C>T	ENSP00000384957.2:p.Gln471Ter
NM_000128.3:c.1411C>T , LRG_583t1:c.1411C>T	NP_000119.1:p.Gln471Ter
XM_005262821.2:c.1414C>T	XP_005262878.1:p.Gln472Ter
XM_005262822.2:c.1414C>T	XP_005262879.1:p.Gln472Ter
XM_005262823.2:c.1144C>T	XP_005262880.1:p.Gln382Ter
XM_005262824.1:c.1414C>T	XP_005262881.1:p.Gln472Ter
XM_006714137.1:c.1366C>T	XP_006714200.1:p.Gln456Ter
XR_938706.1:n.1819C>T
XR_938707.1:n.1819C>T
XM_005262821.4:c.1414C>T	XP_005262878.1:p.Gln472Ter
XM_005262822.4:c.1414C>T	XP_005262879.1:p.Gln472Ter
XM_005262823.4:c.1144C>T	XP_005262880.1:p.Gln382Ter
XM_006714137.3:c.1366C>T	XP_006714200.1:p.Gln456Ter
XR_001741172.2:n.1885C>T
NM_000128.4:c.1411C>T MANE Select	NP_000119.1:p.Gln471Ter