Canonical Allele Identifier: CA388787242

Gene: F7

Linked Data

• gnomAD v4: 13-113119006-T-A
• MyVariant Identifiers: chr13:g.113773320T>A (hg19) ; chr13:g.113119006T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113119006T>A , CM000675.2:g.113119006T>A	GRCh38
NC_000013.10:g.113773320T>A , CM000675.1:g.113773320T>A	GRCh37
NC_000013.9:g.112821321T>A	NCBI36
NG_009258.1:g.1208T>A , LRG_548:g.1208T>A
NG_009262.1:g.18216T>A , LRG_554:g.18216T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.1333T>A MANE Select	ENSP00000329546.4:p.Ter445Lys
ENST00000346342.7:c.1333T>A	ENSP00000329546.3:p.Ter445Lys
ENST00000375581.3:c.1399T>A	ENSP00000364731.3:p.Ter467Lys
ENST00000541084.5:c.1147T>A	ENSP00000442051.2:p.Ter383Lys
NM_000131.4:c.1399T>A , LRG_554t1:c.1399T>A	NP_000122.1:p.Ter467Lys
NM_001267554.1:c.1147T>A	NP_001254483.1:p.Ter383Lys
NM_019616.3:c.1333T>A , LRG_554t2:c.1333T>A	NP_062562.1:p.Ter445Lys
NR_051961.1:n.1420T>A
XM_006719963.2:c.1192T>A	XP_006720026.1:p.Ter398Lys
XM_011537474.1:c.1441T>A	XP_011535776.1:p.Ter481Lys
XM_011537475.1:c.1255T>A	XP_011535777.1:p.Ter419Lys
XM_011537476.1:c.1093T>A	XP_011535778.1:p.Ter365Lys
XM_011537477.1:c.1402T>A	XP_011535779.1:p.Ter468Lys
XM_006719963.3:c.1237T>A	XP_006720026.2:p.Ter413Lys
XM_011537474.2:c.1486T>A	XP_011535776.2:p.Ter496Lys
XM_011537475.2:c.1300T>A	XP_011535777.2:p.Ter434Lys
XM_011537476.2:c.1093T>A	XP_011535778.1:p.Ter365Lys
NM_019616.4:c.1333T>A MANE Select	NP_062562.1:p.Ter445Lys
NR_051961.2:n.1417T>A
NM_001267554.2:c.1147T>A	NP_001254483.1:p.Ter383Lys