Canonical Allele Identifier: CA388786505

Gene: F7

Linked Data

• ClinVar Variation Id: 627214
• ClinVar RCV Id: RCV000852000 ; RCV000851999
• dbSNP Id: rs1595080725
• MyVariant Identifiers: chr13:g.113773081T>C (hg19) ; chr13:g.113118767T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118767T>C , CM000675.2:g.113118767T>C	GRCh38
NC_000013.10:g.113773081T>C , CM000675.1:g.113773081T>C	GRCh37
NC_000013.9:g.112821082T>C	NCBI36
NG_009258.1:g.969T>C , LRG_548:g.969T>C
NG_009262.1:g.17977T>C , LRG_554:g.17977T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.1094T>C MANE Select	ENSP00000329546.4:p.Met365Thr
ENST00000346342.7:c.1094T>C	ENSP00000329546.3:p.Met365Thr
ENST00000375581.3:c.1160T>C	ENSP00000364731.3:p.Met387Thr
ENST00000541084.5:c.908T>C	ENSP00000442051.2:p.Met303Thr
NM_000131.4:c.1160T>C , LRG_554t1:c.1160T>C	NP_000122.1:p.Met387Thr
NM_001267554.1:c.908T>C	NP_001254483.1:p.Met303Thr
NM_019616.3:c.1094T>C , LRG_554t2:c.1094T>C	NP_062562.1:p.Met365Thr
NR_051961.1:n.1181T>C
XM_006719963.2:c.953T>C	XP_006720026.1:p.Met318Thr
XM_011537474.1:c.1202T>C	XP_011535776.1:p.Met401Thr
XM_011537475.1:c.1016T>C	XP_011535777.1:p.Met339Thr
XM_011537476.1:c.854T>C	XP_011535778.1:p.Met285Thr
XM_011537477.1:c.1163T>C	XP_011535779.1:p.Met388Thr
XM_006719963.3:c.998T>C	XP_006720026.2:p.Met333Thr
XM_011537474.2:c.1247T>C	XP_011535776.2:p.Met416Thr
XM_011537475.2:c.1061T>C	XP_011535777.2:p.Met354Thr
XM_011537476.2:c.854T>C	XP_011535778.1:p.Met285Thr
NM_019616.4:c.1094T>C MANE Select	NP_062562.1:p.Met365Thr
NR_051961.2:n.1178T>C
NM_001267554.2:c.908T>C	NP_001254483.1:p.Met303Thr