Canonical Allele Identifier: CA388782381

Gene: F7

Linked Data

• MyVariant Identifiers: chr13:g.113768235T>C (hg19) ; chr13:g.113113921T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113113921T>C , CM000675.2:g.113113921T>C	GRCh38
NC_000013.10:g.113768235T>C , CM000675.1:g.113768235T>C	GRCh37
NC_000013.9:g.112816236T>C	NCBI36
NG_009262.1:g.13131T>C , LRG_554:g.13131T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.325T>C MANE Select	ENSP00000329546.4:p.Phe109Leu
ENST00000346342.7:c.325T>C	ENSP00000329546.3:p.Phe109Leu
ENST00000375581.3:c.391T>C	ENSP00000364731.3:p.Phe131Leu
ENST00000444337.1:c.*133T>C	ENSP00000387669.1:n.*133T>C
ENST00000473085.1:n.272T>C
ENST00000479674.1:n.658T>C
ENST00000541084.5:c.139T>C	ENSP00000442051.2:p.Phe47Leu
NM_000131.4:c.391T>C , LRG_554t1:c.391T>C	NP_000122.1:p.Phe131Leu
NM_001267554.1:c.139T>C	NP_001254483.1:p.Phe47Leu
NM_019616.3:c.325T>C , LRG_554t2:c.325T>C	NP_062562.1:p.Phe109Leu
NR_051961.1:n.412T>C
XM_006719963.2:c.325T>C	XP_006720026.1:p.Phe109Leu
XM_011537474.1:c.325T>C	XP_011535776.1:p.Phe109Leu
XM_011537475.1:c.139T>C	XP_011535777.1:p.Phe47Leu
XM_011537477.1:c.286T>C	XP_011535779.1:p.Phe96Leu
XM_006719963.3:c.370T>C	XP_006720026.2:p.Phe124Leu
XM_011537474.2:c.370T>C	XP_011535776.2:p.Phe124Leu
XM_011537475.2:c.184T>C	XP_011535777.2:p.Phe62Leu
NM_019616.4:c.325T>C MANE Select	NP_062562.1:p.Phe109Leu
NR_051961.2:n.409T>C
NM_001267554.2:c.139T>C	NP_001254483.1:p.Phe47Leu