Canonical Allele Identifier: CA388782447

Gene: F7

Linked Data

• MyVariant Identifiers: chr13:g.113768251T>C (hg19) ; chr13:g.113113937T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113113937T>C , CM000675.2:g.113113937T>C	GRCh38
NC_000013.10:g.113768251T>C , CM000675.1:g.113768251T>C	GRCh37
NC_000013.9:g.112816252T>C	NCBI36
NG_009262.1:g.13147T>C , LRG_554:g.13147T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.341T>C MANE Select	ENSP00000329546.4:p.Phe114Ser
ENST00000346342.7:c.341T>C	ENSP00000329546.3:p.Phe114Ser
ENST00000375581.3:c.407T>C	ENSP00000364731.3:p.Phe136Ser
ENST00000444337.1:c.*149T>C	ENSP00000387669.1:n.*149T>C
ENST00000473085.1:n.288T>C
ENST00000479674.1:n.674T>C
ENST00000541084.5:c.155T>C	ENSP00000442051.2:p.Phe52Ser
NM_000131.4:c.407T>C , LRG_554t1:c.407T>C	NP_000122.1:p.Phe136Ser
NM_001267554.1:c.155T>C	NP_001254483.1:p.Phe52Ser
NM_019616.3:c.341T>C , LRG_554t2:c.341T>C	NP_062562.1:p.Phe114Ser
NR_051961.1:n.428T>C
XM_006719963.2:c.341T>C	XP_006720026.1:p.Phe114Ser
XM_011537474.1:c.341T>C	XP_011535776.1:p.Phe114Ser
XM_011537475.1:c.155T>C	XP_011535777.1:p.Phe52Ser
XM_011537477.1:c.302T>C	XP_011535779.1:p.Phe101Ser
XM_006719963.3:c.386T>C	XP_006720026.2:p.Phe129Ser
XM_011537474.2:c.386T>C	XP_011535776.2:p.Phe129Ser
XM_011537475.2:c.200T>C	XP_011535777.2:p.Phe67Ser
NM_019616.4:c.341T>C MANE Select	NP_062562.1:p.Phe114Ser
NR_051961.2:n.425T>C
NM_001267554.2:c.155T>C	NP_001254483.1:p.Phe52Ser