Canonical Allele Identifier: CA485021533

Gene: F7

Linked Data

• gnomAD v4: 13-113118957-C-T
• MyVariant Identifiers: chr13:g.113773271C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118957C>T , CM000675.2:g.113118957C>T	GRCh38
NC_000013.10:g.113773271C>T , CM000675.1:g.113773271C>T	GRCh37
NC_000013.9:g.112821272C>T	NCBI36
NG_009258.1:g.1159C>T , LRG_548:g.1159C>T
NG_009262.1:g.18167C>T , LRG_554:g.18167C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.1284C>T MANE Select	ENSP00000329546.4:p.Leu428=
ENST00000346342.7:c.1284C>T	ENSP00000329546.3:p.Leu428=
ENST00000375581.3:c.1350C>T	ENSP00000364731.3:p.Leu450=
ENST00000541084.5:c.1098C>T	ENSP00000442051.2:p.Leu366=
NM_000131.4:c.1350C>T , LRG_554t1:c.1350C>T	NP_000122.1:p.Leu450=
NM_001267554.1:c.1098C>T	NP_001254483.1:p.Leu366=
NM_019616.3:c.1284C>T , LRG_554t2:c.1284C>T	NP_062562.1:p.Leu428=
NR_051961.1:n.1371C>T
XM_006719963.2:c.1143C>T	XP_006720026.1:p.Leu381=
XM_011537474.1:c.1392C>T	XP_011535776.1:p.Leu464=
XM_011537475.1:c.1206C>T	XP_011535777.1:p.Leu402=
XM_011537476.1:c.1044C>T	XP_011535778.1:p.Leu348=
XM_011537477.1:c.1353C>T	XP_011535779.1:p.Leu451=
XM_006719963.3:c.1188C>T	XP_006720026.2:p.Leu396=
XM_011537474.2:c.1437C>T	XP_011535776.2:p.Leu479=
XM_011537475.2:c.1251C>T	XP_011535777.2:p.Leu417=
XM_011537476.2:c.1044C>T	XP_011535778.1:p.Leu348=
NM_019616.4:c.1284C>T MANE Select	NP_062562.1:p.Leu428=
NR_051961.2:n.1368C>T
NM_001267554.2:c.1098C>T	NP_001254483.1:p.Leu366=