Canonical Allele Identifier: CA388782350

Gene: F7

Linked Data

• MyVariant Identifiers: chr13:g.113768227A>T (hg19) ; chr13:g.113113913A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113113913A>T , CM000675.2:g.113113913A>T	GRCh38
NC_000013.10:g.113768227A>T , CM000675.1:g.113768227A>T	GRCh37
NC_000013.9:g.112816228A>T	NCBI36
NG_009262.1:g.13123A>T , LRG_554:g.13123A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.317A>T MANE Select	ENSP00000329546.4:p.Tyr106Phe
ENST00000346342.7:c.317A>T	ENSP00000329546.3:p.Tyr106Phe
ENST00000375581.3:c.383A>T	ENSP00000364731.3:p.Tyr128Phe
ENST00000444337.1:c.*125A>T	ENSP00000387669.1:n.*125A>T
ENST00000473085.1:n.264A>T
ENST00000479674.1:n.650A>T
ENST00000541084.5:c.131A>T	ENSP00000442051.2:p.Tyr44Phe
NM_000131.4:c.383A>T , LRG_554t1:c.383A>T	NP_000122.1:p.Tyr128Phe
NM_001267554.1:c.131A>T	NP_001254483.1:p.Tyr44Phe
NM_019616.3:c.317A>T , LRG_554t2:c.317A>T	NP_062562.1:p.Tyr106Phe
NR_051961.1:n.404A>T
XM_006719963.2:c.317A>T	XP_006720026.1:p.Tyr106Phe
XM_011537474.1:c.317A>T	XP_011535776.1:p.Tyr106Phe
XM_011537475.1:c.131A>T	XP_011535777.1:p.Tyr44Phe
XM_011537477.1:c.278A>T	XP_011535779.1:p.Tyr93Phe
XM_006719963.3:c.362A>T	XP_006720026.2:p.Tyr121Phe
XM_011537474.2:c.362A>T	XP_011535776.2:p.Tyr121Phe
XM_011537475.2:c.176A>T	XP_011535777.2:p.Tyr59Phe
NM_019616.4:c.317A>T MANE Select	NP_062562.1:p.Tyr106Phe
NR_051961.2:n.401A>T
NM_001267554.2:c.131A>T	NP_001254483.1:p.Tyr44Phe