Canonical Allele Identifier: CA388786198

Gene: F7

Linked Data

• ClinVar Variation Id: 627193
• ClinVar RCV Id: RCV000851965 ; RCV003323715
• dbSNP Id: rs1250853566
• gnomAD v2: 13-113772948-G-A
• gnomAD v3: 13-113118634-G-A
• gnomAD v4: 13-113118634-G-A
• COSMIC: COSM4682227
• MyVariant Identifiers: chr13:g.113772948G>A (hg19) ; chr13:g.113118634G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118634G>A , CM000675.2:g.113118634G>A	GRCh38
NC_000013.10:g.113772948G>A , CM000675.1:g.113772948G>A	GRCh37
NC_000013.9:g.112820949G>A	NCBI36
NG_009258.1:g.836G>A , LRG_548:g.836G>A
NG_009262.1:g.17844G>A , LRG_554:g.17844G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.961G>A MANE Select	ENSP00000329546.4:p.Gly321Ser
ENST00000346342.7:c.961G>A	ENSP00000329546.3:p.Gly321Ser
ENST00000375581.3:c.1027G>A	ENSP00000364731.3:p.Gly343Ser
ENST00000541084.5:c.775G>A	ENSP00000442051.2:p.Gly259Ser
NM_000131.4:c.1027G>A , LRG_554t1:c.1027G>A	NP_000122.1:p.Gly343Ser
NM_001267554.1:c.775G>A	NP_001254483.1:p.Gly259Ser
NM_019616.3:c.961G>A , LRG_554t2:c.961G>A	NP_062562.1:p.Gly321Ser
NR_051961.1:n.1048G>A
XM_006719963.2:c.820G>A	XP_006720026.1:p.Gly274Ser
XM_011537474.1:c.1069G>A	XP_011535776.1:p.Gly357Ser
XM_011537475.1:c.883G>A	XP_011535777.1:p.Gly295Ser
XM_011537476.1:c.721G>A	XP_011535778.1:p.Gly241Ser
XM_011537477.1:c.1030G>A	XP_011535779.1:p.Gly344Ser
XM_006719963.3:c.865G>A	XP_006720026.2:p.Gly289Ser
XM_011537474.2:c.1114G>A	XP_011535776.2:p.Gly372Ser
XM_011537475.2:c.928G>A	XP_011535777.2:p.Gly310Ser
XM_011537476.2:c.721G>A	XP_011535778.1:p.Gly241Ser
NM_019616.4:c.961G>A MANE Select	NP_062562.1:p.Gly321Ser
NR_051961.2:n.1045G>A
NM_001267554.2:c.775G>A	NP_001254483.1:p.Gly259Ser