Canonical Allele Identifier: CA388782307

Gene: F7

Linked Data

• MyVariant Identifiers: chr13:g.113768217C>T (hg19) ; chr13:g.113113903C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113113903C>T , CM000675.2:g.113113903C>T	GRCh38
NC_000013.10:g.113768217C>T , CM000675.1:g.113768217C>T	GRCh37
NC_000013.9:g.112816218C>T	NCBI36
NG_009262.1:g.13113C>T , LRG_554:g.13113C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.307C>T MANE Select	ENSP00000329546.4:p.Leu103Phe
ENST00000346342.7:c.307C>T	ENSP00000329546.3:p.Leu103Phe
ENST00000375581.3:c.373C>T	ENSP00000364731.3:p.Leu125Phe
ENST00000444337.1:c.*115C>T	ENSP00000387669.1:n.*115C>T
ENST00000473085.1:n.254C>T
ENST00000479674.1:n.640C>T
ENST00000541084.5:c.121C>T	ENSP00000442051.2:p.Leu41Phe
NM_000131.4:c.373C>T , LRG_554t1:c.373C>T	NP_000122.1:p.Leu125Phe
NM_001267554.1:c.121C>T	NP_001254483.1:p.Leu41Phe
NM_019616.3:c.307C>T , LRG_554t2:c.307C>T	NP_062562.1:p.Leu103Phe
NR_051961.1:n.394C>T
XM_006719963.2:c.307C>T	XP_006720026.1:p.Leu103Phe
XM_011537474.1:c.307C>T	XP_011535776.1:p.Leu103Phe
XM_011537475.1:c.121C>T	XP_011535777.1:p.Leu41Phe
XM_011537477.1:c.268C>T	XP_011535779.1:p.Leu90Phe
XM_006719963.3:c.352C>T	XP_006720026.2:p.Leu118Phe
XM_011537474.2:c.352C>T	XP_011535776.2:p.Leu118Phe
XM_011537475.2:c.166C>T	XP_011535777.2:p.Leu56Phe
NM_019616.4:c.307C>T MANE Select	NP_062562.1:p.Leu103Phe
NR_051961.2:n.391C>T
NM_001267554.2:c.121C>T	NP_001254483.1:p.Leu41Phe