Canonical Allele Identifier: CA358942019

Gene: F11

Linked Data

• dbSNP Id: rs1480033291
• gnomAD v2: 4-187205351-A-T
• gnomAD v3: 4-186284197-A-T
• gnomAD v4: 4-186284197-A-T
• MyVariant Identifiers: chr4:g.187205351A>T (hg19) ; chr4:g.186284197A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186284197A>T , CM000666.2:g.186284197A>T	GRCh38
NC_000004.11:g.187205351A>T , CM000666.1:g.187205351A>T	GRCh37
NC_000004.10:g.187442345A>T	NCBI36
NG_008051.1:g.23234A>T , LRG_583:g.23234A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.1241A>T MANE Select	ENSP00000384957.2:p.His414Leu
ENST00000264692.8:c.1079A>T	ENSP00000264692.5:p.His360Leu
ENST00000403665.6:c.1241A>T	ENSP00000384957.2:p.His414Leu
NM_000128.3:c.1241A>T , LRG_583t1:c.1241A>T	NP_000119.1:p.His414Leu
XM_005262821.2:c.1244A>T	XP_005262878.1:p.His415Leu
XM_005262822.2:c.1244A>T	XP_005262879.1:p.His415Leu
XM_005262823.2:c.974A>T	XP_005262880.1:p.His325Leu
XM_005262824.1:c.1244A>T	XP_005262881.1:p.His415Leu
XM_006714137.1:c.1196A>T	XP_006714200.1:p.His399Leu
XR_938706.1:n.1649A>T
XR_938707.1:n.1649A>T
XM_005262821.4:c.1244A>T	XP_005262878.1:p.His415Leu
XM_005262822.4:c.1244A>T	XP_005262879.1:p.His415Leu
XM_005262823.4:c.974A>T	XP_005262880.1:p.His325Leu
XM_006714137.3:c.1196A>T	XP_006714200.1:p.His399Leu
XR_001741172.2:n.1715A>T
NM_000128.4:c.1241A>T MANE Select	NP_000119.1:p.His414Leu