Canonical Allele Identifier: CA388786320

Gene: F7

Linked Data

• gnomAD v4: 13-113118695-C-T
• MyVariant Identifiers: chr13:g.113773009C>T (hg19) ; chr13:g.113118695C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118695C>T , CM000675.2:g.113118695C>T	GRCh38
NC_000013.10:g.113773009C>T , CM000675.1:g.113773009C>T	GRCh37
NC_000013.9:g.112821010C>T	NCBI36
NG_009258.1:g.897C>T , LRG_548:g.897C>T
NG_009262.1:g.17905C>T , LRG_554:g.17905C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.1022C>T MANE Select	ENSP00000329546.4:p.Pro341Leu
ENST00000346342.7:c.1022C>T	ENSP00000329546.3:p.Pro341Leu
ENST00000375581.3:c.1088C>T	ENSP00000364731.3:p.Pro363Leu
ENST00000541084.5:c.836C>T	ENSP00000442051.2:p.Pro279Leu
NM_000131.4:c.1088C>T , LRG_554t1:c.1088C>T	NP_000122.1:p.Pro363Leu
NM_001267554.1:c.836C>T	NP_001254483.1:p.Pro279Leu
NM_019616.3:c.1022C>T , LRG_554t2:c.1022C>T	NP_062562.1:p.Pro341Leu
NR_051961.1:n.1109C>T
XM_006719963.2:c.881C>T	XP_006720026.1:p.Pro294Leu
XM_011537474.1:c.1130C>T	XP_011535776.1:p.Pro377Leu
XM_011537475.1:c.944C>T	XP_011535777.1:p.Pro315Leu
XM_011537476.1:c.782C>T	XP_011535778.1:p.Pro261Leu
XM_011537477.1:c.1091C>T	XP_011535779.1:p.Pro364Leu
XM_006719963.3:c.926C>T	XP_006720026.2:p.Pro309Leu
XM_011537474.2:c.1175C>T	XP_011535776.2:p.Pro392Leu
XM_011537475.2:c.989C>T	XP_011535777.2:p.Pro330Leu
XM_011537476.2:c.782C>T	XP_011535778.1:p.Pro261Leu
NM_019616.4:c.1022C>T MANE Select	NP_062562.1:p.Pro341Leu
NR_051961.2:n.1106C>T
NM_001267554.2:c.836C>T	NP_001254483.1:p.Pro279Leu