Canonical Allele Identifier: CA388782525

Gene: F7

Linked Data

• MyVariant Identifiers: chr13:g.113768267T>G (hg19) ; chr13:g.113113953T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113113953T>G , CM000675.2:g.113113953T>G	GRCh38
NC_000013.10:g.113768267T>G , CM000675.1:g.113768267T>G	GRCh37
NC_000013.9:g.112816268T>G	NCBI36
NG_009262.1:g.13163T>G , LRG_554:g.13163T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.357T>G MANE Select	ENSP00000329546.4:p.Cys119Trp
ENST00000346342.7:c.357T>G	ENSP00000329546.3:p.Cys119Trp
ENST00000375581.3:c.423T>G	ENSP00000364731.3:p.Cys141Trp
ENST00000444337.1:c.*165T>G	ENSP00000387669.1:n.*165T>G
ENST00000473085.1:n.304T>G
ENST00000479674.1:n.690T>G
ENST00000541084.5:c.171T>G	ENSP00000442051.2:p.Cys57Trp
NM_000131.4:c.423T>G , LRG_554t1:c.423T>G	NP_000122.1:p.Cys141Trp
NM_001267554.1:c.171T>G	NP_001254483.1:p.Cys57Trp
NM_019616.3:c.357T>G , LRG_554t2:c.357T>G	NP_062562.1:p.Cys119Trp
NR_051961.1:n.444T>G
XM_006719963.2:c.357T>G	XP_006720026.1:p.Cys119Trp
XM_011537474.1:c.357T>G	XP_011535776.1:p.Cys119Trp
XM_011537475.1:c.171T>G	XP_011535777.1:p.Cys57Trp
XM_011537477.1:c.318T>G	XP_011535779.1:p.Cys106Trp
XM_006719963.3:c.402T>G	XP_006720026.2:p.Cys134Trp
XM_011537474.2:c.402T>G	XP_011535776.2:p.Cys134Trp
XM_011537475.2:c.216T>G	XP_011535777.2:p.Cys72Trp
NM_019616.4:c.357T>G MANE Select	NP_062562.1:p.Cys119Trp
NR_051961.2:n.441T>G
NM_001267554.2:c.171T>G	NP_001254483.1:p.Cys57Trp