Canonical Allele Identifier: CA7060191

Gene: F7

Linked Data

• dbSNP Id: rs368893306
• ExAC: 13:113772926 C / T
• gnomAD v2: 13-113772926-C-T
• gnomAD v3: 13-113118612-C-T
• gnomAD v4: 13-113118612-C-T
• COSMIC: COSM3467360
• MyVariant Identifiers: chr13:g.113772926C>T (hg19) ; chr13:g.113118612C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118612C>T , CM000675.2:g.113118612C>T	GRCh38
NC_000013.10:g.113772926C>T , CM000675.1:g.113772926C>T	GRCh37
NC_000013.9:g.112820927C>T	NCBI36
NG_009258.1:g.814C>T , LRG_548:g.814C>T
NG_009262.1:g.17822C>T , LRG_554:g.17822C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.939C>T MANE Select	ENSP00000329546.4:p.Phe313=
ENST00000346342.7:c.939C>T	ENSP00000329546.3:p.Phe313=
ENST00000375581.3:c.1005C>T	ENSP00000364731.3:p.Phe335=
ENST00000541084.5:c.753C>T	ENSP00000442051.2:p.Phe251=
NM_000131.4:c.1005C>T , LRG_554t1:c.1005C>T	NP_000122.1:p.Phe335=
NM_001267554.1:c.753C>T	NP_001254483.1:p.Phe251=
NM_019616.3:c.939C>T , LRG_554t2:c.939C>T	NP_062562.1:p.Phe313=
NR_051961.1:n.1026C>T
XM_006719963.2:c.798C>T	XP_006720026.1:p.Phe266=
XM_011537474.1:c.1047C>T	XP_011535776.1:p.Phe349=
XM_011537475.1:c.861C>T	XP_011535777.1:p.Phe287=
XM_011537476.1:c.699C>T	XP_011535778.1:p.Phe233=
XM_011537477.1:c.1008C>T	XP_011535779.1:p.Phe336=
XM_006719963.3:c.843C>T	XP_006720026.2:p.Phe281=
XM_011537474.2:c.1092C>T	XP_011535776.2:p.Phe364=
XM_011537475.2:c.906C>T	XP_011535777.2:p.Phe302=
XM_011537476.2:c.699C>T	XP_011535778.1:p.Phe233=
NM_019616.4:c.939C>T MANE Select	NP_062562.1:p.Phe313=
NR_051961.2:n.1023C>T
NM_001267554.2:c.753C>T	NP_001254483.1:p.Phe251=