Canonical Allele Identifier: CA7060236

Gene: F7

Linked Data

• ClinVar Variation Id: 1330279
• ClinVar RCV Id: RCV001801311
• dbSNP Id: rs190485816
• ExAC: 13:113773092 G / A
• gnomAD v2: 13-113773092-G-A
• gnomAD v3: 13-113118778-G-A
• gnomAD v4: 13-113118778-G-A
• MyVariant Identifiers: chr13:g.113773092G>A (hg19) ; chr13:g.113118778G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118778G>A , CM000675.2:g.113118778G>A	GRCh38
NC_000013.10:g.113773092G>A , CM000675.1:g.113773092G>A	GRCh37
NC_000013.9:g.112821093G>A	NCBI36
NG_009258.1:g.980G>A , LRG_548:g.980G>A
NG_009262.1:g.17988G>A , LRG_554:g.17988G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.1105G>A MANE Select	ENSP00000329546.4:p.Gly369Ser
ENST00000346342.7:c.1105G>A	ENSP00000329546.3:p.Gly369Ser
ENST00000375581.3:c.1171G>A	ENSP00000364731.3:p.Gly391Ser
ENST00000541084.5:c.919G>A	ENSP00000442051.2:p.Gly307Ser
NM_000131.4:c.1171G>A , LRG_554t1:c.1171G>A	NP_000122.1:p.Gly391Ser
NM_001267554.1:c.919G>A	NP_001254483.1:p.Gly307Ser
NM_019616.3:c.1105G>A , LRG_554t2:c.1105G>A	NP_062562.1:p.Gly369Ser
NR_051961.1:n.1192G>A
XM_006719963.2:c.964G>A	XP_006720026.1:p.Gly322Ser
XM_011537474.1:c.1213G>A	XP_011535776.1:p.Gly405Ser
XM_011537475.1:c.1027G>A	XP_011535777.1:p.Gly343Ser
XM_011537476.1:c.865G>A	XP_011535778.1:p.Gly289Ser
XM_011537477.1:c.1174G>A	XP_011535779.1:p.Gly392Ser
XM_006719963.3:c.1009G>A	XP_006720026.2:p.Gly337Ser
XM_011537474.2:c.1258G>A	XP_011535776.2:p.Gly420Ser
XM_011537475.2:c.1072G>A	XP_011535777.2:p.Gly358Ser
XM_011537476.2:c.865G>A	XP_011535778.1:p.Gly289Ser
NM_019616.4:c.1105G>A MANE Select	NP_062562.1:p.Gly369Ser
NR_051961.2:n.1189G>A
NM_001267554.2:c.919G>A	NP_001254483.1:p.Gly307Ser