Canonical Allele Identifier: CA388782451

Gene: F7

Linked Data

• MyVariant Identifiers: chr13:g.113768252C>A (hg19) ; chr13:g.113113938C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113113938C>A , CM000675.2:g.113113938C>A	GRCh38
NC_000013.10:g.113768252C>A , CM000675.1:g.113768252C>A	GRCh37
NC_000013.9:g.112816253C>A	NCBI36
NG_009262.1:g.13148C>A , LRG_554:g.13148C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.342C>A MANE Select	ENSP00000329546.4:p.Phe114Leu
ENST00000346342.7:c.342C>A	ENSP00000329546.3:p.Phe114Leu
ENST00000375581.3:c.408C>A	ENSP00000364731.3:p.Phe136Leu
ENST00000444337.1:c.*150C>A	ENSP00000387669.1:n.*150C>A
ENST00000473085.1:n.289C>A
ENST00000479674.1:n.675C>A
ENST00000541084.5:c.156C>A	ENSP00000442051.2:p.Phe52Leu
NM_000131.4:c.408C>A , LRG_554t1:c.408C>A	NP_000122.1:p.Phe136Leu
NM_001267554.1:c.156C>A	NP_001254483.1:p.Phe52Leu
NM_019616.3:c.342C>A , LRG_554t2:c.342C>A	NP_062562.1:p.Phe114Leu
NR_051961.1:n.429C>A
XM_006719963.2:c.342C>A	XP_006720026.1:p.Phe114Leu
XM_011537474.1:c.342C>A	XP_011535776.1:p.Phe114Leu
XM_011537475.1:c.156C>A	XP_011535777.1:p.Phe52Leu
XM_011537477.1:c.303C>A	XP_011535779.1:p.Phe101Leu
XM_006719963.3:c.387C>A	XP_006720026.2:p.Phe129Leu
XM_011537474.2:c.387C>A	XP_011535776.2:p.Phe129Leu
XM_011537475.2:c.201C>A	XP_011535777.2:p.Phe67Leu
NM_019616.4:c.342C>A MANE Select	NP_062562.1:p.Phe114Leu
NR_051961.2:n.426C>A
NM_001267554.2:c.156C>A	NP_001254483.1:p.Phe52Leu