Canonical Allele Identifier: CA388782316

Gene: F7

Linked Data

• gnomAD v4: 13-113113906-C-A
• MyVariant Identifiers: chr13:g.113768220C>A (hg19) ; chr13:g.113113906C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113113906C>A , CM000675.2:g.113113906C>A	GRCh38
NC_000013.10:g.113768220C>A , CM000675.1:g.113768220C>A	GRCh37
NC_000013.9:g.112816221C>A	NCBI36
NG_009262.1:g.13116C>A , LRG_554:g.13116C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.310C>A MANE Select	ENSP00000329546.4:p.Gln104Lys
ENST00000346342.7:c.310C>A	ENSP00000329546.3:p.Gln104Lys
ENST00000375581.3:c.376C>A	ENSP00000364731.3:p.Gln126Lys
ENST00000444337.1:c.*118C>A	ENSP00000387669.1:n.*118C>A
ENST00000473085.1:n.257C>A
ENST00000479674.1:n.643C>A
ENST00000541084.5:c.124C>A	ENSP00000442051.2:p.Gln42Lys
NM_000131.4:c.376C>A , LRG_554t1:c.376C>A	NP_000122.1:p.Gln126Lys
NM_001267554.1:c.124C>A	NP_001254483.1:p.Gln42Lys
NM_019616.3:c.310C>A , LRG_554t2:c.310C>A	NP_062562.1:p.Gln104Lys
NR_051961.1:n.397C>A
XM_006719963.2:c.310C>A	XP_006720026.1:p.Gln104Lys
XM_011537474.1:c.310C>A	XP_011535776.1:p.Gln104Lys
XM_011537475.1:c.124C>A	XP_011535777.1:p.Gln42Lys
XM_011537477.1:c.271C>A	XP_011535779.1:p.Gln91Lys
XM_006719963.3:c.355C>A	XP_006720026.2:p.Gln119Lys
XM_011537474.2:c.355C>A	XP_011535776.2:p.Gln119Lys
XM_011537475.2:c.169C>A	XP_011535777.2:p.Gln57Lys
NM_019616.4:c.310C>A MANE Select	NP_062562.1:p.Gln104Lys
NR_051961.2:n.394C>A
NM_001267554.2:c.124C>A	NP_001254483.1:p.Gln42Lys