Canonical Allele Identifier: CA388786536

Gene: F7

Linked Data

• gnomAD v4: 13-113118773-G-T
• MyVariant Identifiers: chr13:g.113773087G>T (hg19) ; chr13:g.113118773G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118773G>T , CM000675.2:g.113118773G>T	GRCh38
NC_000013.10:g.113773087G>T , CM000675.1:g.113773087G>T	GRCh37
NC_000013.9:g.112821088G>T	NCBI36
NG_009258.1:g.975G>T , LRG_548:g.975G>T
NG_009262.1:g.17983G>T , LRG_554:g.17983G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000346342.8:c.1100G>T MANE Select	ENSP00000329546.4:p.Cys367Phe
ENST00000346342.7:c.1100G>T	ENSP00000329546.3:p.Cys367Phe
ENST00000375581.3:c.1166G>T	ENSP00000364731.3:p.Cys389Phe
ENST00000541084.5:c.914G>T	ENSP00000442051.2:p.Cys305Phe
NM_000131.4:c.1166G>T , LRG_554t1:c.1166G>T	NP_000122.1:p.Cys389Phe
NM_001267554.1:c.914G>T	NP_001254483.1:p.Cys305Phe
NM_019616.3:c.1100G>T , LRG_554t2:c.1100G>T	NP_062562.1:p.Cys367Phe
NR_051961.1:n.1187G>T
XM_006719963.2:c.959G>T	XP_006720026.1:p.Cys320Phe
XM_011537474.1:c.1208G>T	XP_011535776.1:p.Cys403Phe
XM_011537475.1:c.1022G>T	XP_011535777.1:p.Cys341Phe
XM_011537476.1:c.860G>T	XP_011535778.1:p.Cys287Phe
XM_011537477.1:c.1169G>T	XP_011535779.1:p.Cys390Phe
XM_006719963.3:c.1004G>T	XP_006720026.2:p.Cys335Phe
XM_011537474.2:c.1253G>T	XP_011535776.2:p.Cys418Phe
XM_011537475.2:c.1067G>T	XP_011535777.2:p.Cys356Phe
XM_011537476.2:c.860G>T	XP_011535778.1:p.Cys287Phe
NM_019616.4:c.1100G>T MANE Select	NP_062562.1:p.Cys367Phe
NR_051961.2:n.1184G>T
NM_001267554.2:c.914G>T	NP_001254483.1:p.Cys305Phe