Canonical Allele Identifier: CA388787215

Gene: F7

Linked Data

• gnomAD v4: 13-113118992-G-C
• COSMIC: COSM695944
• MyVariant Identifiers: chr13:g.113773306G>C (hg19) ; chr13:g.113118992G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118992G>C , CM000675.2:g.113118992G>C	GRCh38
NC_000013.10:g.113773306G>C , CM000675.1:g.113773306G>C	GRCh37
NC_000013.9:g.112821307G>C	NCBI36
NG_009258.1:g.1194G>C , LRG_548:g.1194G>C
NG_009262.1:g.18202G>C , LRG_554:g.18202G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.1319G>C MANE Select	ENSP00000329546.4:p.Arg440Pro
ENST00000346342.7:c.1319G>C	ENSP00000329546.3:p.Arg440Pro
ENST00000375581.3:c.1385G>C	ENSP00000364731.3:p.Arg462Pro
ENST00000541084.5:c.1133G>C	ENSP00000442051.2:p.Arg378Pro
NM_000131.4:c.1385G>C , LRG_554t1:c.1385G>C	NP_000122.1:p.Arg462Pro
NM_001267554.1:c.1133G>C	NP_001254483.1:p.Arg378Pro
NM_019616.3:c.1319G>C , LRG_554t2:c.1319G>C	NP_062562.1:p.Arg440Pro
NR_051961.1:n.1406G>C
XM_006719963.2:c.1178G>C	XP_006720026.1:p.Arg393Pro
XM_011537474.1:c.1427G>C	XP_011535776.1:p.Arg476Pro
XM_011537475.1:c.1241G>C	XP_011535777.1:p.Arg414Pro
XM_011537476.1:c.1079G>C	XP_011535778.1:p.Arg360Pro
XM_011537477.1:c.1388G>C	XP_011535779.1:p.Arg463Pro
XM_006719963.3:c.1223G>C	XP_006720026.2:p.Arg408Pro
XM_011537474.2:c.1472G>C	XP_011535776.2:p.Arg491Pro
XM_011537475.2:c.1286G>C	XP_011535777.2:p.Arg429Pro
XM_011537476.2:c.1079G>C	XP_011535778.1:p.Arg360Pro
NM_019616.4:c.1319G>C MANE Select	NP_062562.1:p.Arg440Pro
NR_051961.2:n.1403G>C
NM_001267554.2:c.1133G>C	NP_001254483.1:p.Arg378Pro