Canonical Allele Identifier: CA485423950

Gene: F7

Linked Data

• dbSNP Id: rs1410134506
• gnomAD v3: 13-113118630-C-T
• gnomAD v4: 13-113118630-C-T
• MyVariant Identifiers: chr13:g.113772944C>T (hg19) ; chr13:g.113118630C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118630C>T , CM000675.2:g.113118630C>T	GRCh38
NC_000013.10:g.113772944C>T , CM000675.1:g.113772944C>T	GRCh37
NC_000013.9:g.112820945C>T	NCBI36
NG_009258.1:g.832C>T , LRG_548:g.832C>T
NG_009262.1:g.17840C>T , LRG_554:g.17840C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.957C>T MANE Select	ENSP00000329546.4:p.Val319=
ENST00000346342.7:c.957C>T	ENSP00000329546.3:p.Val319=
ENST00000375581.3:c.1023C>T	ENSP00000364731.3:p.Val341=
ENST00000541084.5:c.771C>T	ENSP00000442051.2:p.Val257=
NM_000131.4:c.1023C>T , LRG_554t1:c.1023C>T	NP_000122.1:p.Val341=
NM_001267554.1:c.771C>T	NP_001254483.1:p.Val257=
NM_019616.3:c.957C>T , LRG_554t2:c.957C>T	NP_062562.1:p.Val319=
NR_051961.1:n.1044C>T
XM_006719963.2:c.816C>T	XP_006720026.1:p.Val272=
XM_011537474.1:c.1065C>T	XP_011535776.1:p.Val355=
XM_011537475.1:c.879C>T	XP_011535777.1:p.Val293=
XM_011537476.1:c.717C>T	XP_011535778.1:p.Val239=
XM_011537477.1:c.1026C>T	XP_011535779.1:p.Val342=
XM_006719963.3:c.861C>T	XP_006720026.2:p.Val287=
XM_011537474.2:c.1110C>T	XP_011535776.2:p.Val370=
XM_011537475.2:c.924C>T	XP_011535777.2:p.Val308=
XM_011537476.2:c.717C>T	XP_011535778.1:p.Val239=
NM_019616.4:c.957C>T MANE Select	NP_062562.1:p.Val319=
NR_051961.2:n.1041C>T
NM_001267554.2:c.771C>T	NP_001254483.1:p.Val257=