Canonical Allele Identifier: CA7060225

Gene: F7

Linked Data

• ClinVar Variation Id: 3091481
• ClinVar RCV Id: RCV004385867
• dbSNP Id: rs201058276
• ExAC: 13:113773045 G / A
• gnomAD v2: 13-113773045-G-A
• gnomAD v3: 13-113118731-G-A
• gnomAD v4: 13-113118731-G-A
• MyVariant Identifiers: chr13:g.113773045G>A (hg19) ; chr13:g.113118731G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118731G>A , CM000675.2:g.113118731G>A	GRCh38
NC_000013.10:g.113773045G>A , CM000675.1:g.113773045G>A	GRCh37
NC_000013.9:g.112821046G>A	NCBI36
NG_009258.1:g.933G>A , LRG_548:g.933G>A
NG_009262.1:g.17941G>A , LRG_554:g.17941G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.1058G>A MANE Select	ENSP00000329546.4:p.Arg353Gln
ENST00000346342.7:c.1058G>A	ENSP00000329546.3:p.Arg353Gln
ENST00000375581.3:c.1124G>A	ENSP00000364731.3:p.Arg375Gln
ENST00000541084.5:c.872G>A	ENSP00000442051.2:p.Arg291Gln
NM_000131.4:c.1124G>A , LRG_554t1:c.1124G>A	NP_000122.1:p.Arg375Gln
NM_001267554.1:c.872G>A	NP_001254483.1:p.Arg291Gln
NM_019616.3:c.1058G>A , LRG_554t2:c.1058G>A	NP_062562.1:p.Arg353Gln
NR_051961.1:n.1145G>A
XM_006719963.2:c.917G>A	XP_006720026.1:p.Arg306Gln
XM_011537474.1:c.1166G>A	XP_011535776.1:p.Arg389Gln
XM_011537475.1:c.980G>A	XP_011535777.1:p.Arg327Gln
XM_011537476.1:c.818G>A	XP_011535778.1:p.Arg273Gln
XM_011537477.1:c.1127G>A	XP_011535779.1:p.Arg376Gln
XM_006719963.3:c.962G>A	XP_006720026.2:p.Arg321Gln
XM_011537474.2:c.1211G>A	XP_011535776.2:p.Arg404Gln
XM_011537475.2:c.1025G>A	XP_011535777.2:p.Arg342Gln
XM_011537476.2:c.818G>A	XP_011535778.1:p.Arg273Gln
NM_019616.4:c.1058G>A MANE Select	NP_062562.1:p.Arg353Gln
NR_051961.2:n.1142G>A
NM_001267554.2:c.872G>A	NP_001254483.1:p.Arg291Gln