Canonical Allele Identifier: CA3163910

Gene: F11

Linked Data

• dbSNP Id: rs778202744
• ExAC: 4:187205276 T / C
• MyVariant Identifiers: chr4:g.187205276T>C (hg19) ; chr4:g.186284122T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186284122T>C , CM000666.2:g.186284122T>C	GRCh38
NC_000004.11:g.187205276T>C , CM000666.1:g.187205276T>C	GRCh37
NC_000004.10:g.187442270T>C	NCBI36
NG_008051.1:g.23159T>C , LRG_583:g.23159T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000403665.7:c.1166T>C MANE Select	ENSP00000384957.2:p.Val389Ala
ENST00000264692.8:c.1004T>C	ENSP00000264692.5:p.Val335Ala
ENST00000403665.6:c.1166T>C	ENSP00000384957.2:p.Val389Ala
NM_000128.3:c.1166T>C , LRG_583t1:c.1166T>C	NP_000119.1:p.Val389Ala
XM_005262821.2:c.1169T>C	XP_005262878.1:p.Val390Ala
XM_005262822.2:c.1169T>C	XP_005262879.1:p.Val390Ala
XM_005262823.2:c.899T>C	XP_005262880.1:p.Val300Ala
XM_005262824.1:c.1169T>C	XP_005262881.1:p.Val390Ala
XM_006714137.1:c.1121T>C	XP_006714200.1:p.Val374Ala
XR_938706.1:n.1574T>C
XR_938707.1:n.1574T>C
XM_005262821.4:c.1169T>C	XP_005262878.1:p.Val390Ala
XM_005262822.4:c.1169T>C	XP_005262879.1:p.Val390Ala
XM_005262823.4:c.899T>C	XP_005262880.1:p.Val300Ala
XM_006714137.3:c.1121T>C	XP_006714200.1:p.Val374Ala
XM_017007884.2:c.*2138T>C	XP_016863373.1:n.*2138T>C
XM_017007885.2:c.*34T>C	XP_016863374.1:n.*34T>C
XR_001741172.2:n.1640T>C
NM_000128.4:c.1166T>C MANE Select	NP_000119.1:p.Val389Ala