Canonical Allele Identifier: CA388786242

Gene: F7

Linked Data

• dbSNP Id: rs574630461
• gnomAD v2: 13-113772968-C-A
• gnomAD v4: 13-113118654-C-A
• MyVariant Identifiers: chr13:g.113772968C>A (hg19) ; chr13:g.113118654C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118654C>A , CM000675.2:g.113118654C>A	GRCh38
NC_000013.10:g.113772968C>A , CM000675.1:g.113772968C>A	GRCh37
NC_000013.9:g.112820969C>A	NCBI36
NG_009258.1:g.856C>A , LRG_548:g.856C>A
NG_009262.1:g.17864C>A , LRG_554:g.17864C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.981C>A MANE Select	ENSP00000329546.4:p.Asp327Glu
ENST00000346342.7:c.981C>A	ENSP00000329546.3:p.Asp327Glu
ENST00000375581.3:c.1047C>A	ENSP00000364731.3:p.Asp349Glu
ENST00000541084.5:c.795C>A	ENSP00000442051.2:p.Asp265Glu
NM_000131.4:c.1047C>A , LRG_554t1:c.1047C>A	NP_000122.1:p.Asp349Glu
NM_001267554.1:c.795C>A	NP_001254483.1:p.Asp265Glu
NM_019616.3:c.981C>A , LRG_554t2:c.981C>A	NP_062562.1:p.Asp327Glu
NR_051961.1:n.1068C>A
XM_006719963.2:c.840C>A	XP_006720026.1:p.Asp280Glu
XM_011537474.1:c.1089C>A	XP_011535776.1:p.Asp363Glu
XM_011537475.1:c.903C>A	XP_011535777.1:p.Asp301Glu
XM_011537476.1:c.741C>A	XP_011535778.1:p.Asp247Glu
XM_011537477.1:c.1050C>A	XP_011535779.1:p.Asp350Glu
XM_006719963.3:c.885C>A	XP_006720026.2:p.Asp295Glu
XM_011537474.2:c.1134C>A	XP_011535776.2:p.Asp378Glu
XM_011537475.2:c.948C>A	XP_011535777.2:p.Asp316Glu
XM_011537476.2:c.741C>A	XP_011535778.1:p.Asp247Glu
NM_019616.4:c.981C>A MANE Select	NP_062562.1:p.Asp327Glu
NR_051961.2:n.1065C>A
NM_001267554.2:c.795C>A	NP_001254483.1:p.Asp265Glu