Canonical Allele Identifier: CA388782377

Gene: F7

Linked Data

• MyVariant Identifiers: chr13:g.113768234C>A (hg19) ; chr13:g.113113920C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113113920C>A , CM000675.2:g.113113920C>A	GRCh38
NC_000013.10:g.113768234C>A , CM000675.1:g.113768234C>A	GRCh37
NC_000013.9:g.112816235C>A	NCBI36
NG_009262.1:g.13130C>A , LRG_554:g.13130C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.324C>A MANE Select	ENSP00000329546.4:p.Cys108Ter
ENST00000346342.7:c.324C>A	ENSP00000329546.3:p.Cys108Ter
ENST00000375581.3:c.390C>A	ENSP00000364731.3:p.Cys130Ter
ENST00000444337.1:c.*132C>A	ENSP00000387669.1:n.*132C>A
ENST00000473085.1:n.271C>A
ENST00000479674.1:n.657C>A
ENST00000541084.5:c.138C>A	ENSP00000442051.2:p.Cys46Ter
NM_000131.4:c.390C>A , LRG_554t1:c.390C>A	NP_000122.1:p.Cys130Ter
NM_001267554.1:c.138C>A	NP_001254483.1:p.Cys46Ter
NM_019616.3:c.324C>A , LRG_554t2:c.324C>A	NP_062562.1:p.Cys108Ter
NR_051961.1:n.411C>A
XM_006719963.2:c.324C>A	XP_006720026.1:p.Cys108Ter
XM_011537474.1:c.324C>A	XP_011535776.1:p.Cys108Ter
XM_011537475.1:c.138C>A	XP_011535777.1:p.Cys46Ter
XM_011537477.1:c.285C>A	XP_011535779.1:p.Cys95Ter
XM_006719963.3:c.369C>A	XP_006720026.2:p.Cys123Ter
XM_011537474.2:c.369C>A	XP_011535776.2:p.Cys123Ter
XM_011537475.2:c.183C>A	XP_011535777.2:p.Cys61Ter
NM_019616.4:c.324C>A MANE Select	NP_062562.1:p.Cys108Ter
NR_051961.2:n.408C>A
NM_001267554.2:c.138C>A	NP_001254483.1:p.Cys46Ter