Canonical Allele Identifier: CA485423822

Gene: F7

Linked Data

• dbSNP Id: rs1484091044
• gnomAD v3: 13-113118426-C-T
• gnomAD v4: 13-113118426-C-T
• MyVariant Identifiers: chr13:g.113772740C>T (hg19) ; chr13:g.113118426C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118426C>T , CM000675.2:g.113118426C>T	GRCh38
NC_000013.10:g.113772740C>T , CM000675.1:g.113772740C>T	GRCh37
NC_000013.9:g.112820741C>T	NCBI36
NG_009258.1:g.628C>T , LRG_548:g.628C>T
NG_009262.1:g.17636C>T , LRG_554:g.17636C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.753C>T MANE Select	ENSP00000329546.4:p.Leu251=
ENST00000346342.7:c.753C>T	ENSP00000329546.3:p.Leu251=
ENST00000375581.3:c.819C>T	ENSP00000364731.3:p.Leu273=
ENST00000541084.5:c.567C>T	ENSP00000442051.2:p.Leu189=
NM_000131.4:c.819C>T , LRG_554t1:c.819C>T	NP_000122.1:p.Leu273=
NM_001267554.1:c.567C>T	NP_001254483.1:p.Leu189=
NM_019616.3:c.753C>T , LRG_554t2:c.753C>T	NP_062562.1:p.Leu251=
NR_051961.1:n.840C>T
XM_006719963.2:c.612C>T	XP_006720026.1:p.Leu204=
XM_011537474.1:c.861C>T	XP_011535776.1:p.Leu287=
XM_011537475.1:c.675C>T	XP_011535777.1:p.Leu225=
XM_011537476.1:c.513C>T	XP_011535778.1:p.Leu171=
XM_011537477.1:c.822C>T	XP_011535779.1:p.Leu274=
XM_006719963.3:c.657C>T	XP_006720026.2:p.Leu219=
XM_011537474.2:c.906C>T	XP_011535776.2:p.Leu302=
XM_011537475.2:c.720C>T	XP_011535777.2:p.Leu240=
XM_011537476.2:c.513C>T	XP_011535778.1:p.Leu171=
NM_019616.4:c.753C>T MANE Select	NP_062562.1:p.Leu251=
NR_051961.2:n.837C>T
NM_001267554.2:c.567C>T	NP_001254483.1:p.Leu189=