Canonical Allele Identifier: CA388782372

Gene: F7

Linked Data

• MyVariant Identifiers: chr13:g.113768232T>A (hg19) ; chr13:g.113113918T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113113918T>A , CM000675.2:g.113113918T>A	GRCh38
NC_000013.10:g.113768232T>A , CM000675.1:g.113768232T>A	GRCh37
NC_000013.9:g.112816233T>A	NCBI36
NG_009262.1:g.13128T>A , LRG_554:g.13128T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.322T>A MANE Select	ENSP00000329546.4:p.Cys108Ser
ENST00000346342.7:c.322T>A	ENSP00000329546.3:p.Cys108Ser
ENST00000375581.3:c.388T>A	ENSP00000364731.3:p.Cys130Ser
ENST00000444337.1:c.*130T>A	ENSP00000387669.1:n.*130T>A
ENST00000473085.1:n.269T>A
ENST00000479674.1:n.655T>A
ENST00000541084.5:c.136T>A	ENSP00000442051.2:p.Cys46Ser
NM_000131.4:c.388T>A , LRG_554t1:c.388T>A	NP_000122.1:p.Cys130Ser
NM_001267554.1:c.136T>A	NP_001254483.1:p.Cys46Ser
NM_019616.3:c.322T>A , LRG_554t2:c.322T>A	NP_062562.1:p.Cys108Ser
NR_051961.1:n.409T>A
XM_006719963.2:c.322T>A	XP_006720026.1:p.Cys108Ser
XM_011537474.1:c.322T>A	XP_011535776.1:p.Cys108Ser
XM_011537475.1:c.136T>A	XP_011535777.1:p.Cys46Ser
XM_011537477.1:c.283T>A	XP_011535779.1:p.Cys95Ser
XM_006719963.3:c.367T>A	XP_006720026.2:p.Cys123Ser
XM_011537474.2:c.367T>A	XP_011535776.2:p.Cys123Ser
XM_011537475.2:c.181T>A	XP_011535777.2:p.Cys61Ser
NM_019616.4:c.322T>A MANE Select	NP_062562.1:p.Cys108Ser
NR_051961.2:n.406T>A
NM_001267554.2:c.136T>A	NP_001254483.1:p.Cys46Ser