Canonical Allele Identifier: CA388782270

Gene: F7

Linked Data

• MyVariant Identifiers: chr13:g.113768209A>C (hg19) ; chr13:g.113113895A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113113895A>C , CM000675.2:g.113113895A>C	GRCh38
NC_000013.10:g.113768209A>C , CM000675.1:g.113768209A>C	GRCh37
NC_000013.9:g.112816210A>C	NCBI36
NG_009262.1:g.13105A>C , LRG_554:g.13105A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.299A>C MANE Select	ENSP00000329546.4:p.Lys100Thr
ENST00000346342.7:c.299A>C	ENSP00000329546.3:p.Lys100Thr
ENST00000375581.3:c.365A>C	ENSP00000364731.3:p.Lys122Thr
ENST00000444337.1:c.*107A>C	ENSP00000387669.1:n.*107A>C
ENST00000473085.1:n.246A>C
ENST00000479674.1:n.632A>C
ENST00000541084.5:c.113A>C	ENSP00000442051.2:p.Lys38Thr
NM_000131.4:c.365A>C , LRG_554t1:c.365A>C	NP_000122.1:p.Lys122Thr
NM_001267554.1:c.113A>C	NP_001254483.1:p.Lys38Thr
NM_019616.3:c.299A>C , LRG_554t2:c.299A>C	NP_062562.1:p.Lys100Thr
NR_051961.1:n.386A>C
XM_006719963.2:c.299A>C	XP_006720026.1:p.Lys100Thr
XM_011537474.1:c.299A>C	XP_011535776.1:p.Lys100Thr
XM_011537475.1:c.113A>C	XP_011535777.1:p.Lys38Thr
XM_011537477.1:c.260A>C	XP_011535779.1:p.Lys87Thr
XM_006719963.3:c.344A>C	XP_006720026.2:p.Lys115Thr
XM_011537474.2:c.344A>C	XP_011535776.2:p.Lys115Thr
XM_011537475.2:c.158A>C	XP_011535777.2:p.Lys53Thr
NM_019616.4:c.299A>C MANE Select	NP_062562.1:p.Lys100Thr
NR_051961.2:n.383A>C
NM_001267554.2:c.113A>C	NP_001254483.1:p.Lys38Thr