Canonical Allele Identifier: CA112102505

Gene: F11

Linked Data

• dbSNP Id: rs549818323
• gnomAD v4: 4-186284216-C-T
• MyVariant Identifiers: chr4:g.187205370C>T (hg19) ; chr4:g.186284216C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186284216C>T , CM000666.2:g.186284216C>T	GRCh38
NC_000004.11:g.187205370C>T , CM000666.1:g.187205370C>T	GRCh37
NC_000004.10:g.187442364C>T	NCBI36
NG_008051.1:g.23253C>T , LRG_583:g.23253C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000403665.7:c.1260C>T MANE Select	ENSP00000384957.2:p.Ile420=
ENST00000264692.8:c.1098C>T	ENSP00000264692.5:p.Ile366=
ENST00000403665.6:c.1260C>T	ENSP00000384957.2:p.Ile420=
NM_000128.3:c.1260C>T , LRG_583t1:c.1260C>T	NP_000119.1:p.Ile420=
XM_005262821.2:c.1263C>T	XP_005262878.1:p.Ile421=
XM_005262822.2:c.1263C>T	XP_005262879.1:p.Ile421=
XM_005262823.2:c.993C>T	XP_005262880.1:p.Ile331=
XM_005262824.1:c.1263C>T	XP_005262881.1:p.Ile421=
XM_006714137.1:c.1215C>T	XP_006714200.1:p.Ile405=
XR_938706.1:n.1668C>T
XR_938707.1:n.1668C>T
XM_005262821.4:c.1263C>T	XP_005262878.1:p.Ile421=
XM_005262822.4:c.1263C>T	XP_005262879.1:p.Ile421=
XM_005262823.4:c.993C>T	XP_005262880.1:p.Ile331=
XM_006714137.3:c.1215C>T	XP_006714200.1:p.Ile405=
XR_001741172.2:n.1734C>T
NM_000128.4:c.1260C>T MANE Select	NP_000119.1:p.Ile420=