Canonical Allele Identifier: CA388785272

Gene: F7

Linked Data

• gnomAD v4: 13-113117513-C-G
• MyVariant Identifiers: chr13:g.113771827C>G (hg19) ; chr13:g.113117513C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113117513C>G , CM000675.2:g.113117513C>G	GRCh38
NC_000013.10:g.113771827C>G , CM000675.1:g.113771827C>G	GRCh37
NC_000013.9:g.112819828C>G	NCBI36
NG_009262.1:g.16723C>G , LRG_554:g.16723C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.656C>G MANE Select	ENSP00000329546.4:p.Thr219Ser
ENST00000346342.7:c.656C>G	ENSP00000329546.3:p.Thr219Ser
ENST00000375581.3:c.722C>G	ENSP00000364731.3:p.Thr241Ser
ENST00000541084.5:c.470C>G	ENSP00000442051.2:p.Thr157Ser
NM_000131.4:c.722C>G , LRG_554t1:c.722C>G	NP_000122.1:p.Thr241Ser
NM_001267554.1:c.470C>G	NP_001254483.1:p.Thr157Ser
NM_019616.3:c.656C>G , LRG_554t2:c.656C>G	NP_062562.1:p.Thr219Ser
NR_051961.1:n.743C>G
XM_006719963.2:c.515C>G	XP_006720026.1:p.Thr172Ser
XM_011537474.1:c.764C>G	XP_011535776.1:p.Thr255Ser
XM_011537475.1:c.578C>G	XP_011535777.1:p.Thr193Ser
XM_011537476.1:c.416C>G	XP_011535778.1:p.Thr139Ser
XM_011537477.1:c.725C>G	XP_011535779.1:p.Thr242Ser
XM_006719963.3:c.560C>G	XP_006720026.2:p.Thr187Ser
XM_011537474.2:c.809C>G	XP_011535776.2:p.Thr270Ser
XM_011537475.2:c.623C>G	XP_011535777.2:p.Thr208Ser
XM_011537476.2:c.416C>G	XP_011535778.1:p.Thr139Ser
NM_019616.4:c.656C>G MANE Select	NP_062562.1:p.Thr219Ser
NR_051961.2:n.740C>G
NM_001267554.2:c.470C>G	NP_001254483.1:p.Thr157Ser