Canonical Allele Identifier: CA388787225

Gene: F7

Linked Data

• gnomAD v4: 13-113118998-C-T
• MyVariant Identifiers: chr13:g.113773312C>T (hg19) ; chr13:g.113118998C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118998C>T , CM000675.2:g.113118998C>T	GRCh38
NC_000013.10:g.113773312C>T , CM000675.1:g.113773312C>T	GRCh37
NC_000013.9:g.112821313C>T	NCBI36
NG_009258.1:g.1200C>T , LRG_548:g.1200C>T
NG_009262.1:g.18208C>T , LRG_554:g.18208C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.1325C>T MANE Select	ENSP00000329546.4:p.Pro442Leu
ENST00000346342.7:c.1325C>T	ENSP00000329546.3:p.Pro442Leu
ENST00000375581.3:c.1391C>T	ENSP00000364731.3:p.Pro464Leu
ENST00000541084.5:c.1139C>T	ENSP00000442051.2:p.Pro380Leu
NM_000131.4:c.1391C>T , LRG_554t1:c.1391C>T	NP_000122.1:p.Pro464Leu
NM_001267554.1:c.1139C>T	NP_001254483.1:p.Pro380Leu
NM_019616.3:c.1325C>T , LRG_554t2:c.1325C>T	NP_062562.1:p.Pro442Leu
NR_051961.1:n.1412C>T
XM_006719963.2:c.1184C>T	XP_006720026.1:p.Pro395Leu
XM_011537474.1:c.1433C>T	XP_011535776.1:p.Pro478Leu
XM_011537475.1:c.1247C>T	XP_011535777.1:p.Pro416Leu
XM_011537476.1:c.1085C>T	XP_011535778.1:p.Pro362Leu
XM_011537477.1:c.1394C>T	XP_011535779.1:p.Pro465Leu
XM_006719963.3:c.1229C>T	XP_006720026.2:p.Pro410Leu
XM_011537474.2:c.1478C>T	XP_011535776.2:p.Pro493Leu
XM_011537475.2:c.1292C>T	XP_011535777.2:p.Pro431Leu
XM_011537476.2:c.1085C>T	XP_011535778.1:p.Pro362Leu
NM_019616.4:c.1325C>T MANE Select	NP_062562.1:p.Pro442Leu
NR_051961.2:n.1409C>T
NM_001267554.2:c.1139C>T	NP_001254483.1:p.Pro380Leu