Canonical Allele Identifier: CA388786747

Gene: F7

Linked Data

• ClinVar Variation Id: 2582716
• ClinVar RCV Id: RCV003333832
• gnomAD v4: 13-113118818-G-A
• MyVariant Identifiers: chr13:g.113773132G>A (hg19) ; chr13:g.113118818G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118818G>A , CM000675.2:g.113118818G>A	GRCh38
NC_000013.10:g.113773132G>A , CM000675.1:g.113773132G>A	GRCh37
NC_000013.9:g.112821133G>A	NCBI36
NG_009258.1:g.1020G>A , LRG_548:g.1020G>A
NG_009262.1:g.18028G>A , LRG_554:g.18028G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.1145G>A MANE Select	ENSP00000329546.4:p.Ser382Asn
ENST00000346342.7:c.1145G>A	ENSP00000329546.3:p.Ser382Asn
ENST00000375581.3:c.1211G>A	ENSP00000364731.3:p.Ser404Asn
ENST00000541084.5:c.959G>A	ENSP00000442051.2:p.Ser320Asn
NM_000131.4:c.1211G>A , LRG_554t1:c.1211G>A	NP_000122.1:p.Ser404Asn
NM_001267554.1:c.959G>A	NP_001254483.1:p.Ser320Asn
NM_019616.3:c.1145G>A , LRG_554t2:c.1145G>A	NP_062562.1:p.Ser382Asn
NR_051961.1:n.1232G>A
XM_006719963.2:c.1004G>A	XP_006720026.1:p.Ser335Asn
XM_011537474.1:c.1253G>A	XP_011535776.1:p.Ser418Asn
XM_011537475.1:c.1067G>A	XP_011535777.1:p.Ser356Asn
XM_011537476.1:c.905G>A	XP_011535778.1:p.Ser302Asn
XM_011537477.1:c.1214G>A	XP_011535779.1:p.Ser405Asn
XM_006719963.3:c.1049G>A	XP_006720026.2:p.Ser350Asn
XM_011537474.2:c.1298G>A	XP_011535776.2:p.Ser433Asn
XM_011537475.2:c.1112G>A	XP_011535777.2:p.Ser371Asn
XM_011537476.2:c.905G>A	XP_011535778.1:p.Ser302Asn
NM_019616.4:c.1145G>A MANE Select	NP_062562.1:p.Ser382Asn
NR_051961.2:n.1229G>A
NM_001267554.2:c.959G>A	NP_001254483.1:p.Ser320Asn