Canonical Allele Identifier: CA388782375

Gene: F7

Linked Data

• MyVariant Identifiers: chr13:g.113768233G>C (hg19) ; chr13:g.113113919G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113113919G>C , CM000675.2:g.113113919G>C	GRCh38
NC_000013.10:g.113768233G>C , CM000675.1:g.113768233G>C	GRCh37
NC_000013.9:g.112816234G>C	NCBI36
NG_009262.1:g.13129G>C , LRG_554:g.13129G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.323G>C MANE Select	ENSP00000329546.4:p.Cys108Ser
ENST00000346342.7:c.323G>C	ENSP00000329546.3:p.Cys108Ser
ENST00000375581.3:c.389G>C	ENSP00000364731.3:p.Cys130Ser
ENST00000444337.1:c.*131G>C	ENSP00000387669.1:n.*131G>C
ENST00000473085.1:n.270G>C
ENST00000479674.1:n.656G>C
ENST00000541084.5:c.137G>C	ENSP00000442051.2:p.Cys46Ser
NM_000131.4:c.389G>C , LRG_554t1:c.389G>C	NP_000122.1:p.Cys130Ser
NM_001267554.1:c.137G>C	NP_001254483.1:p.Cys46Ser
NM_019616.3:c.323G>C , LRG_554t2:c.323G>C	NP_062562.1:p.Cys108Ser
NR_051961.1:n.410G>C
XM_006719963.2:c.323G>C	XP_006720026.1:p.Cys108Ser
XM_011537474.1:c.323G>C	XP_011535776.1:p.Cys108Ser
XM_011537475.1:c.137G>C	XP_011535777.1:p.Cys46Ser
XM_011537477.1:c.284G>C	XP_011535779.1:p.Cys95Ser
XM_006719963.3:c.368G>C	XP_006720026.2:p.Cys123Ser
XM_011537474.2:c.368G>C	XP_011535776.2:p.Cys123Ser
XM_011537475.2:c.182G>C	XP_011535777.2:p.Cys61Ser
NM_019616.4:c.323G>C MANE Select	NP_062562.1:p.Cys108Ser
NR_051961.2:n.407G>C
NM_001267554.2:c.137G>C	NP_001254483.1:p.Cys46Ser