Canonical Allele Identifier: CA388782056

Gene: F7

Linked Data

• gnomAD v4: 13-113113777-G-T
• MyVariant Identifiers: chr13:g.113768091G>T (hg19) ; chr13:g.113113777G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113113777G>T , CM000675.2:g.113113777G>T	GRCh38
NC_000013.10:g.113768091G>T , CM000675.1:g.113768091G>T	GRCh37
NC_000013.9:g.112816092G>T	NCBI36
NG_009262.1:g.12987G>T , LRG_554:g.12987G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.250+1G>T MANE Select	ENSP00000329546.4:n.250+1G>T
ENST00000346342.7:c.250+1G>T	ENSP00000329546.3:n.250+1G>T
ENST00000375581.3:c.316+1G>T	ENSP00000364731.3:n.316+1G>T
ENST00000444337.1:c.214G>T	ENSP00000387669.1:p.Val72Leu
ENST00000473085.1:n.197+1G>T
ENST00000479674.1:n.514G>T
ENST00000541084.5:c.65-70G>T	ENSP00000442051.2:n.65-70G>T
NM_000131.4:c.316+1G>T , LRG_554t1:c.316+1G>T	NP_000122.1:n.316+1G>T
NM_001267554.1:c.65-70G>T	NP_001254483.1:n.65-70G>T
NM_019616.3:c.250+1G>T , LRG_554t2:c.250+1G>T	NP_062562.1:n.250+1G>T
NR_051961.1:n.268G>T
XM_006719963.2:c.250+1G>T	XP_006720026.1:n.250+1G>T
XM_011537474.1:c.250+1G>T	XP_011535776.1:n.250+1G>T
XM_011537475.1:c.65-70G>T	XP_011535777.1:n.65-70G>T
XM_011537477.1:c.212-70G>T	XP_011535779.1:n.212-70G>T
XM_006719963.3:c.295+1G>T	XP_006720026.2:n.295+1G>T
XM_011537474.2:c.295+1G>T	XP_011535776.2:n.295+1G>T
XM_011537475.2:c.110-70G>T	XP_011535777.2:n.110-70G>T
NM_019616.4:c.250+1G>T MANE Select	NP_062562.1:n.250+1G>T
NR_051961.2:n.265G>T
NM_001267554.2:c.65-70G>T	NP_001254483.1:n.65-70G>T