Canonical Allele Identifier: CA388785816

Gene: F7

Linked Data

• gnomAD v4: 13-113118438-C-A
• MyVariant Identifiers: chr13:g.113772752C>A (hg19) ; chr13:g.113118438C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118438C>A , CM000675.2:g.113118438C>A	GRCh38
NC_000013.10:g.113772752C>A , CM000675.1:g.113772752C>A	GRCh37
NC_000013.9:g.112820753C>A	NCBI36
NG_009258.1:g.640C>A , LRG_548:g.640C>A
NG_009262.1:g.17648C>A , LRG_554:g.17648C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.765C>A MANE Select	ENSP00000329546.4:p.Asp255Glu
ENST00000346342.7:c.765C>A	ENSP00000329546.3:p.Asp255Glu
ENST00000375581.3:c.831C>A	ENSP00000364731.3:p.Asp277Glu
ENST00000541084.5:c.579C>A	ENSP00000442051.2:p.Asp193Glu
NM_000131.4:c.831C>A , LRG_554t1:c.831C>A	NP_000122.1:p.Asp277Glu
NM_001267554.1:c.579C>A	NP_001254483.1:p.Asp193Glu
NM_019616.3:c.765C>A , LRG_554t2:c.765C>A	NP_062562.1:p.Asp255Glu
NR_051961.1:n.852C>A
XM_006719963.2:c.624C>A	XP_006720026.1:p.Asp208Glu
XM_011537474.1:c.873C>A	XP_011535776.1:p.Asp291Glu
XM_011537475.1:c.687C>A	XP_011535777.1:p.Asp229Glu
XM_011537476.1:c.525C>A	XP_011535778.1:p.Asp175Glu
XM_011537477.1:c.834C>A	XP_011535779.1:p.Asp278Glu
XM_006719963.3:c.669C>A	XP_006720026.2:p.Asp223Glu
XM_011537474.2:c.918C>A	XP_011535776.2:p.Asp306Glu
XM_011537475.2:c.732C>A	XP_011535777.2:p.Asp244Glu
XM_011537476.2:c.525C>A	XP_011535778.1:p.Asp175Glu
NM_019616.4:c.765C>A MANE Select	NP_062562.1:p.Asp255Glu
NR_051961.2:n.849C>A
NM_001267554.2:c.579C>A	NP_001254483.1:p.Asp193Glu