Canonical Allele Identifier: CA388786280

Gene: F7

Linked Data

• MyVariant Identifiers: chr13:g.113772990C>T (hg19) ; chr13:g.113118676C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118676C>T , CM000675.2:g.113118676C>T	GRCh38
NC_000013.10:g.113772990C>T , CM000675.1:g.113772990C>T	GRCh37
NC_000013.9:g.112820991C>T	NCBI36
NG_009258.1:g.878C>T , LRG_548:g.878C>T
NG_009262.1:g.17886C>T , LRG_554:g.17886C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.1003C>T MANE Select	ENSP00000329546.4:p.Leu335Phe
ENST00000346342.7:c.1003C>T	ENSP00000329546.3:p.Leu335Phe
ENST00000375581.3:c.1069C>T	ENSP00000364731.3:p.Leu357Phe
ENST00000541084.5:c.817C>T	ENSP00000442051.2:p.Leu273Phe
NM_000131.4:c.1069C>T , LRG_554t1:c.1069C>T	NP_000122.1:p.Leu357Phe
NM_001267554.1:c.817C>T	NP_001254483.1:p.Leu273Phe
NM_019616.3:c.1003C>T , LRG_554t2:c.1003C>T	NP_062562.1:p.Leu335Phe
NR_051961.1:n.1090C>T
XM_006719963.2:c.862C>T	XP_006720026.1:p.Leu288Phe
XM_011537474.1:c.1111C>T	XP_011535776.1:p.Leu371Phe
XM_011537475.1:c.925C>T	XP_011535777.1:p.Leu309Phe
XM_011537476.1:c.763C>T	XP_011535778.1:p.Leu255Phe
XM_011537477.1:c.1072C>T	XP_011535779.1:p.Leu358Phe
XM_006719963.3:c.907C>T	XP_006720026.2:p.Leu303Phe
XM_011537474.2:c.1156C>T	XP_011535776.2:p.Leu386Phe
XM_011537475.2:c.970C>T	XP_011535777.2:p.Leu324Phe
XM_011537476.2:c.763C>T	XP_011535778.1:p.Leu255Phe
NM_019616.4:c.1003C>T MANE Select	NP_062562.1:p.Leu335Phe
NR_051961.2:n.1087C>T
NM_001267554.2:c.817C>T	NP_001254483.1:p.Leu273Phe