Canonical Allele Identifier: CA388787223

Gene: F7

Linked Data

• gnomAD v4: 13-113118997-C-G
• MyVariant Identifiers: chr13:g.113773311C>G (hg19) ; chr13:g.113118997C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118997C>G , CM000675.2:g.113118997C>G	GRCh38
NC_000013.10:g.113773311C>G , CM000675.1:g.113773311C>G	GRCh37
NC_000013.9:g.112821312C>G	NCBI36
NG_009258.1:g.1199C>G , LRG_548:g.1199C>G
NG_009262.1:g.18207C>G , LRG_554:g.18207C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.1324C>G MANE Select	ENSP00000329546.4:p.Pro442Ala
ENST00000346342.7:c.1324C>G	ENSP00000329546.3:p.Pro442Ala
ENST00000375581.3:c.1390C>G	ENSP00000364731.3:p.Pro464Ala
ENST00000541084.5:c.1138C>G	ENSP00000442051.2:p.Pro380Ala
NM_000131.4:c.1390C>G , LRG_554t1:c.1390C>G	NP_000122.1:p.Pro464Ala
NM_001267554.1:c.1138C>G	NP_001254483.1:p.Pro380Ala
NM_019616.3:c.1324C>G , LRG_554t2:c.1324C>G	NP_062562.1:p.Pro442Ala
NR_051961.1:n.1411C>G
XM_006719963.2:c.1183C>G	XP_006720026.1:p.Pro395Ala
XM_011537474.1:c.1432C>G	XP_011535776.1:p.Pro478Ala
XM_011537475.1:c.1246C>G	XP_011535777.1:p.Pro416Ala
XM_011537476.1:c.1084C>G	XP_011535778.1:p.Pro362Ala
XM_011537477.1:c.1393C>G	XP_011535779.1:p.Pro465Ala
XM_006719963.3:c.1228C>G	XP_006720026.2:p.Pro410Ala
XM_011537474.2:c.1477C>G	XP_011535776.2:p.Pro493Ala
XM_011537475.2:c.1291C>G	XP_011535777.2:p.Pro431Ala
XM_011537476.2:c.1084C>G	XP_011535778.1:p.Pro362Ala
NM_019616.4:c.1324C>G MANE Select	NP_062562.1:p.Pro442Ala
NR_051961.2:n.1408C>G
NM_001267554.2:c.1138C>G	NP_001254483.1:p.Pro380Ala