Canonical Allele Identifier: CA388787243

Gene: F7

Linked Data

• gnomAD v4: 13-113119006-T-C
• MyVariant Identifiers: chr13:g.113773320T>C (hg19) ; chr13:g.113119006T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113119006T>C , CM000675.2:g.113119006T>C	GRCh38
NC_000013.10:g.113773320T>C , CM000675.1:g.113773320T>C	GRCh37
NC_000013.9:g.112821321T>C	NCBI36
NG_009258.1:g.1208T>C , LRG_548:g.1208T>C
NG_009262.1:g.18216T>C , LRG_554:g.18216T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.1333T>C MANE Select	ENSP00000329546.4:p.Ter445Gln
ENST00000346342.7:c.1333T>C	ENSP00000329546.3:p.Ter445Gln
ENST00000375581.3:c.1399T>C	ENSP00000364731.3:p.Ter467Gln
ENST00000541084.5:c.1147T>C	ENSP00000442051.2:p.Ter383Gln
NM_000131.4:c.1399T>C , LRG_554t1:c.1399T>C	NP_000122.1:p.Ter467Gln
NM_001267554.1:c.1147T>C	NP_001254483.1:p.Ter383Gln
NM_019616.3:c.1333T>C , LRG_554t2:c.1333T>C	NP_062562.1:p.Ter445Gln
NR_051961.1:n.1420T>C
XM_006719963.2:c.1192T>C	XP_006720026.1:p.Ter398Gln
XM_011537474.1:c.1441T>C	XP_011535776.1:p.Ter481Gln
XM_011537475.1:c.1255T>C	XP_011535777.1:p.Ter419Gln
XM_011537476.1:c.1093T>C	XP_011535778.1:p.Ter365Gln
XM_011537477.1:c.1402T>C	XP_011535779.1:p.Ter468Gln
XM_006719963.3:c.1237T>C	XP_006720026.2:p.Ter413Gln
XM_011537474.2:c.1486T>C	XP_011535776.2:p.Ter496Gln
XM_011537475.2:c.1300T>C	XP_011535777.2:p.Ter434Gln
XM_011537476.2:c.1093T>C	XP_011535778.1:p.Ter365Gln
NM_019616.4:c.1333T>C MANE Select	NP_062562.1:p.Ter445Gln
NR_051961.2:n.1417T>C
NM_001267554.2:c.1147T>C	NP_001254483.1:p.Ter383Gln