Canonical Allele Identifier: CA358941629

Gene: F11

Linked Data

• gnomAD v4: 4-186284121-G-C
• COSMIC: COSM1237777
• MyVariant Identifiers: chr4:g.187205275G>C (hg19) ; chr4:g.186284121G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186284121G>C , CM000666.2:g.186284121G>C	GRCh38
NC_000004.11:g.187205275G>C , CM000666.1:g.187205275G>C	GRCh37
NC_000004.10:g.187442269G>C	NCBI36
NG_008051.1:g.23158G>C , LRG_583:g.23158G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000403665.7:c.1165G>C MANE Select	ENSP00000384957.2:p.Val389Leu
ENST00000264692.8:c.1003G>C	ENSP00000264692.5:p.Val335Leu
ENST00000403665.6:c.1165G>C	ENSP00000384957.2:p.Val389Leu
NM_000128.3:c.1165G>C , LRG_583t1:c.1165G>C	NP_000119.1:p.Val389Leu
XM_005262821.2:c.1168G>C	XP_005262878.1:p.Val390Leu
XM_005262822.2:c.1168G>C	XP_005262879.1:p.Val390Leu
XM_005262823.2:c.898G>C	XP_005262880.1:p.Val300Leu
XM_005262824.1:c.1168G>C	XP_005262881.1:p.Val390Leu
XM_006714137.1:c.1120G>C	XP_006714200.1:p.Val374Leu
XR_938706.1:n.1573G>C
XR_938707.1:n.1573G>C
XM_005262821.4:c.1168G>C	XP_005262878.1:p.Val390Leu
XM_005262822.4:c.1168G>C	XP_005262879.1:p.Val390Leu
XM_005262823.4:c.898G>C	XP_005262880.1:p.Val300Leu
XM_006714137.3:c.1120G>C	XP_006714200.1:p.Val374Leu
XM_017007884.2:c.*2137G>C	XP_016863373.1:n.*2137G>C
XM_017007885.2:c.*33G>C	XP_016863374.1:n.*33G>C
XR_001741172.2:n.1639G>C
NM_000128.4:c.1165G>C MANE Select	NP_000119.1:p.Val389Leu