Canonical Allele Identifier: CA388787238

Gene: F7

Linked Data

• MyVariant Identifiers: chr13:g.113773318C>A (hg19) ; chr13:g.113119004C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113119004C>A , CM000675.2:g.113119004C>A	GRCh38
NC_000013.10:g.113773318C>A , CM000675.1:g.113773318C>A	GRCh37
NC_000013.9:g.112821319C>A	NCBI36
NG_009258.1:g.1206C>A , LRG_548:g.1206C>A
NG_009262.1:g.18214C>A , LRG_554:g.18214C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.1331C>A MANE Select	ENSP00000329546.4:p.Pro444His
ENST00000346342.7:c.1331C>A	ENSP00000329546.3:p.Pro444His
ENST00000375581.3:c.1397C>A	ENSP00000364731.3:p.Pro466His
ENST00000541084.5:c.1145C>A	ENSP00000442051.2:p.Pro382His
NM_000131.4:c.1397C>A , LRG_554t1:c.1397C>A	NP_000122.1:p.Pro466His
NM_001267554.1:c.1145C>A	NP_001254483.1:p.Pro382His
NM_019616.3:c.1331C>A , LRG_554t2:c.1331C>A	NP_062562.1:p.Pro444His
NR_051961.1:n.1418C>A
XM_006719963.2:c.1190C>A	XP_006720026.1:p.Pro397His
XM_011537474.1:c.1439C>A	XP_011535776.1:p.Pro480His
XM_011537475.1:c.1253C>A	XP_011535777.1:p.Pro418His
XM_011537476.1:c.1091C>A	XP_011535778.1:p.Pro364His
XM_011537477.1:c.1400C>A	XP_011535779.1:p.Pro467His
XM_006719963.3:c.1235C>A	XP_006720026.2:p.Pro412His
XM_011537474.2:c.1484C>A	XP_011535776.2:p.Pro495His
XM_011537475.2:c.1298C>A	XP_011535777.2:p.Pro433His
XM_011537476.2:c.1091C>A	XP_011535778.1:p.Pro364His
NM_019616.4:c.1331C>A MANE Select	NP_062562.1:p.Pro444His
NR_051961.2:n.1415C>A
NM_001267554.2:c.1145C>A	NP_001254483.1:p.Pro382His