Canonical Allele Identifier: CA388786693

Gene: F7

Linked Data

• gnomAD v4: 13-113118806-G-A
• MyVariant Identifiers: chr13:g.113773120G>A (hg19) ; chr13:g.113118806G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118806G>A , CM000675.2:g.113118806G>A	GRCh38
NC_000013.10:g.113773120G>A , CM000675.1:g.113773120G>A	GRCh37
NC_000013.9:g.112821121G>A	NCBI36
NG_009258.1:g.1008G>A , LRG_548:g.1008G>A
NG_009262.1:g.18016G>A , LRG_554:g.18016G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.1133G>A MANE Select	ENSP00000329546.4:p.Cys378Tyr
ENST00000346342.7:c.1133G>A	ENSP00000329546.3:p.Cys378Tyr
ENST00000375581.3:c.1199G>A	ENSP00000364731.3:p.Cys400Tyr
ENST00000541084.5:c.947G>A	ENSP00000442051.2:p.Cys316Tyr
NM_000131.4:c.1199G>A , LRG_554t1:c.1199G>A	NP_000122.1:p.Cys400Tyr
NM_001267554.1:c.947G>A	NP_001254483.1:p.Cys316Tyr
NM_019616.3:c.1133G>A , LRG_554t2:c.1133G>A	NP_062562.1:p.Cys378Tyr
NR_051961.1:n.1220G>A
XM_006719963.2:c.992G>A	XP_006720026.1:p.Cys331Tyr
XM_011537474.1:c.1241G>A	XP_011535776.1:p.Cys414Tyr
XM_011537475.1:c.1055G>A	XP_011535777.1:p.Cys352Tyr
XM_011537476.1:c.893G>A	XP_011535778.1:p.Cys298Tyr
XM_011537477.1:c.1202G>A	XP_011535779.1:p.Cys401Tyr
XM_006719963.3:c.1037G>A	XP_006720026.2:p.Cys346Tyr
XM_011537474.2:c.1286G>A	XP_011535776.2:p.Cys429Tyr
XM_011537475.2:c.1100G>A	XP_011535777.2:p.Cys367Tyr
XM_011537476.2:c.893G>A	XP_011535778.1:p.Cys298Tyr
NM_019616.4:c.1133G>A MANE Select	NP_062562.1:p.Cys378Tyr
NR_051961.2:n.1217G>A
NM_001267554.2:c.947G>A	NP_001254483.1:p.Cys316Tyr