Canonical Allele Identifier: CA388782412

Gene: F7

Linked Data

• dbSNP Id: rs1384496953
• gnomAD v2: 13-113768241-C-T
• gnomAD v4: 13-113113927-C-T
• MyVariant Identifiers: chr13:g.113768241C>T (hg19) ; chr13:g.113113927C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113113927C>T , CM000675.2:g.113113927C>T	GRCh38
NC_000013.10:g.113768241C>T , CM000675.1:g.113768241C>T	GRCh37
NC_000013.9:g.112816242C>T	NCBI36
NG_009262.1:g.13137C>T , LRG_554:g.13137C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.331C>T MANE Select	ENSP00000329546.4:p.Leu111Phe
ENST00000346342.7:c.331C>T	ENSP00000329546.3:p.Leu111Phe
ENST00000375581.3:c.397C>T	ENSP00000364731.3:p.Leu133Phe
ENST00000444337.1:c.*139C>T	ENSP00000387669.1:n.*139C>T
ENST00000473085.1:n.278C>T
ENST00000479674.1:n.664C>T
ENST00000541084.5:c.145C>T	ENSP00000442051.2:p.Leu49Phe
NM_000131.4:c.397C>T , LRG_554t1:c.397C>T	NP_000122.1:p.Leu133Phe
NM_001267554.1:c.145C>T	NP_001254483.1:p.Leu49Phe
NM_019616.3:c.331C>T , LRG_554t2:c.331C>T	NP_062562.1:p.Leu111Phe
NR_051961.1:n.418C>T
XM_006719963.2:c.331C>T	XP_006720026.1:p.Leu111Phe
XM_011537474.1:c.331C>T	XP_011535776.1:p.Leu111Phe
XM_011537475.1:c.145C>T	XP_011535777.1:p.Leu49Phe
XM_011537477.1:c.292C>T	XP_011535779.1:p.Leu98Phe
XM_006719963.3:c.376C>T	XP_006720026.2:p.Leu126Phe
XM_011537474.2:c.376C>T	XP_011535776.2:p.Leu126Phe
XM_011537475.2:c.190C>T	XP_011535777.2:p.Leu64Phe
NM_019616.4:c.331C>T MANE Select	NP_062562.1:p.Leu111Phe
NR_051961.2:n.415C>T
NM_001267554.2:c.145C>T	NP_001254483.1:p.Leu49Phe