Canonical Allele Identifier: CA3163968

Gene: F11

Linked Data

• dbSNP Id: rs377383440
• ExAC: 4:187206820 T / C
• gnomAD v2: 4-187206820-T-C
• gnomAD v4: 4-186285666-T-C
• MyVariant Identifiers: chr4:g.187206820T>C (hg19) ; chr4:g.186285666T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186285666T>C , CM000666.2:g.186285666T>C	GRCh38
NC_000004.11:g.187206820T>C , CM000666.1:g.187206820T>C	GRCh37
NC_000004.10:g.187443814T>C	NCBI36
NG_008051.1:g.24703T>C , LRG_583:g.24703T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.1333T>C MANE Select	ENSP00000384957.2:p.Tyr445His
ENST00000264691.4:c.29T>C
ENST00000264692.8:c.1171T>C	ENSP00000264692.5:p.Tyr391His
ENST00000403665.6:c.1333T>C	ENSP00000384957.2:p.Tyr445His
NM_000128.3:c.1333T>C , LRG_583t1:c.1333T>C	NP_000119.1:p.Tyr445His
XM_005262821.2:c.1336T>C	XP_005262878.1:p.Tyr446His
XM_005262822.2:c.1336T>C	XP_005262879.1:p.Tyr446His
XM_005262823.2:c.1066T>C	XP_005262880.1:p.Tyr356His
XM_005262824.1:c.1336T>C	XP_005262881.1:p.Tyr446His
XM_006714137.1:c.1288T>C	XP_006714200.1:p.Tyr430His
XR_938706.1:n.1741T>C
XR_938707.1:n.1741T>C
XM_005262821.4:c.1336T>C	XP_005262878.1:p.Tyr446His
XM_005262822.4:c.1336T>C	XP_005262879.1:p.Tyr446His
XM_005262823.4:c.1066T>C	XP_005262880.1:p.Tyr356His
XM_006714137.3:c.1288T>C	XP_006714200.1:p.Tyr430His
XR_001741172.2:n.1807T>C
NM_000128.4:c.1333T>C MANE Select	NP_000119.1:p.Tyr445His