Canonical Allele Identifier: CA388786459

Gene: F7

Linked Data

• dbSNP Id: rs531225271
• gnomAD v2: 13-113773072-C-A
• gnomAD v4: 13-113118758-C-A
• MyVariant Identifiers: chr13:g.113773072C>A (hg19) ; chr13:g.113118758C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118758C>A , CM000675.2:g.113118758C>A	GRCh38
NC_000013.10:g.113773072C>A , CM000675.1:g.113773072C>A	GRCh37
NC_000013.9:g.112821073C>A	NCBI36
NG_009258.1:g.960C>A , LRG_548:g.960C>A
NG_009262.1:g.17968C>A , LRG_554:g.17968C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.1085C>A MANE Select	ENSP00000329546.4:p.Thr362Lys
ENST00000346342.7:c.1085C>A	ENSP00000329546.3:p.Thr362Lys
ENST00000375581.3:c.1151C>A	ENSP00000364731.3:p.Thr384Lys
ENST00000541084.5:c.899C>A	ENSP00000442051.2:p.Thr300Lys
NM_000131.4:c.1151C>A , LRG_554t1:c.1151C>A	NP_000122.1:p.Thr384Lys
NM_001267554.1:c.899C>A	NP_001254483.1:p.Thr300Lys
NM_019616.3:c.1085C>A , LRG_554t2:c.1085C>A	NP_062562.1:p.Thr362Lys
NR_051961.1:n.1172C>A
XM_006719963.2:c.944C>A	XP_006720026.1:p.Thr315Lys
XM_011537474.1:c.1193C>A	XP_011535776.1:p.Thr398Lys
XM_011537475.1:c.1007C>A	XP_011535777.1:p.Thr336Lys
XM_011537476.1:c.845C>A	XP_011535778.1:p.Thr282Lys
XM_011537477.1:c.1154C>A	XP_011535779.1:p.Thr385Lys
XM_006719963.3:c.989C>A	XP_006720026.2:p.Thr330Lys
XM_011537474.2:c.1238C>A	XP_011535776.2:p.Thr413Lys
XM_011537475.2:c.1052C>A	XP_011535777.2:p.Thr351Lys
XM_011537476.2:c.845C>A	XP_011535778.1:p.Thr282Lys
NM_019616.4:c.1085C>A MANE Select	NP_062562.1:p.Thr362Lys
NR_051961.2:n.1169C>A
NM_001267554.2:c.899C>A	NP_001254483.1:p.Thr300Lys