Canonical Allele Identifier: CA388785871

Gene: F7

Linked Data

• dbSNP Id: rs2036236459
• gnomAD v4: 13-113118467-A-T
• MyVariant Identifiers: chr13:g.113772781A>T (hg19) ; chr13:g.113118467A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118467A>T , CM000675.2:g.113118467A>T	GRCh38
NC_000013.10:g.113772781A>T , CM000675.1:g.113772781A>T	GRCh37
NC_000013.9:g.112820782A>T	NCBI36
NG_009258.1:g.669A>T , LRG_548:g.669A>T
NG_009262.1:g.17677A>T , LRG_554:g.17677A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.794A>T MANE Select	ENSP00000329546.4:p.Gln265Leu
ENST00000346342.7:c.794A>T	ENSP00000329546.3:p.Gln265Leu
ENST00000375581.3:c.860A>T	ENSP00000364731.3:p.Gln287Leu
ENST00000541084.5:c.608A>T	ENSP00000442051.2:p.Gln203Leu
NM_000131.4:c.860A>T , LRG_554t1:c.860A>T	NP_000122.1:p.Gln287Leu
NM_001267554.1:c.608A>T	NP_001254483.1:p.Gln203Leu
NM_019616.3:c.794A>T , LRG_554t2:c.794A>T	NP_062562.1:p.Gln265Leu
NR_051961.1:n.881A>T
XM_006719963.2:c.653A>T	XP_006720026.1:p.Gln218Leu
XM_011537474.1:c.902A>T	XP_011535776.1:p.Gln301Leu
XM_011537475.1:c.716A>T	XP_011535777.1:p.Gln239Leu
XM_011537476.1:c.554A>T	XP_011535778.1:p.Gln185Leu
XM_011537477.1:c.863A>T	XP_011535779.1:p.Gln288Leu
XM_006719963.3:c.698A>T	XP_006720026.2:p.Gln233Leu
XM_011537474.2:c.947A>T	XP_011535776.2:p.Gln316Leu
XM_011537475.2:c.761A>T	XP_011535777.2:p.Gln254Leu
XM_011537476.2:c.554A>T	XP_011535778.1:p.Gln185Leu
NM_019616.4:c.794A>T MANE Select	NP_062562.1:p.Gln265Leu
NR_051961.2:n.878A>T
NM_001267554.2:c.608A>T	NP_001254483.1:p.Gln203Leu