Canonical Allele Identifier: CA485020403

Gene: F7

Linked Data

• dbSNP Id: rs1219677196
• gnomAD v2: 13-113768252-C-T
• gnomAD v3: 13-113113938-C-T
• gnomAD v4: 13-113113938-C-T
• COSMIC: COSM945534
• MyVariant Identifiers: chr13:g.113768252C>T (hg19) ; chr13:g.113113938C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113113938C>T , CM000675.2:g.113113938C>T	GRCh38
NC_000013.10:g.113768252C>T , CM000675.1:g.113768252C>T	GRCh37
NC_000013.9:g.112816253C>T	NCBI36
NG_009262.1:g.13148C>T , LRG_554:g.13148C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.342C>T MANE Select	ENSP00000329546.4:p.Phe114=
ENST00000346342.7:c.342C>T	ENSP00000329546.3:p.Phe114=
ENST00000375581.3:c.408C>T	ENSP00000364731.3:p.Phe136=
ENST00000444337.1:c.*150C>T	ENSP00000387669.1:n.*150C>T
ENST00000473085.1:n.289C>T
ENST00000479674.1:n.675C>T
ENST00000541084.5:c.156C>T	ENSP00000442051.2:p.Phe52=
NM_000131.4:c.408C>T , LRG_554t1:c.408C>T	NP_000122.1:p.Phe136=
NM_001267554.1:c.156C>T	NP_001254483.1:p.Phe52=
NM_019616.3:c.342C>T , LRG_554t2:c.342C>T	NP_062562.1:p.Phe114=
NR_051961.1:n.429C>T
XM_006719963.2:c.342C>T	XP_006720026.1:p.Phe114=
XM_011537474.1:c.342C>T	XP_011535776.1:p.Phe114=
XM_011537475.1:c.156C>T	XP_011535777.1:p.Phe52=
XM_011537477.1:c.303C>T	XP_011535779.1:p.Phe101=
XM_006719963.3:c.387C>T	XP_006720026.2:p.Phe129=
XM_011537474.2:c.387C>T	XP_011535776.2:p.Phe129=
XM_011537475.2:c.201C>T	XP_011535777.2:p.Phe67=
NM_019616.4:c.342C>T MANE Select	NP_062562.1:p.Phe114=
NR_051961.2:n.426C>T
NM_001267554.2:c.156C>T	NP_001254483.1:p.Phe52=