Canonical Allele Identifier: CA388785818

Gene: F7

Linked Data

• gnomAD v4: 13-113118439-G-T
• MyVariant Identifiers: chr13:g.113772753G>T (hg19) ; chr13:g.113118439G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118439G>T , CM000675.2:g.113118439G>T	GRCh38
NC_000013.10:g.113772753G>T , CM000675.1:g.113772753G>T	GRCh37
NC_000013.9:g.112820754G>T	NCBI36
NG_009258.1:g.641G>T , LRG_548:g.641G>T
NG_009262.1:g.17649G>T , LRG_554:g.17649G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.766G>T MANE Select	ENSP00000329546.4:p.Gly256Trp
ENST00000346342.7:c.766G>T	ENSP00000329546.3:p.Gly256Trp
ENST00000375581.3:c.832G>T	ENSP00000364731.3:p.Gly278Trp
ENST00000541084.5:c.580G>T	ENSP00000442051.2:p.Gly194Trp
NM_000131.4:c.832G>T , LRG_554t1:c.832G>T	NP_000122.1:p.Gly278Trp
NM_001267554.1:c.580G>T	NP_001254483.1:p.Gly194Trp
NM_019616.3:c.766G>T , LRG_554t2:c.766G>T	NP_062562.1:p.Gly256Trp
NR_051961.1:n.853G>T
XM_006719963.2:c.625G>T	XP_006720026.1:p.Gly209Trp
XM_011537474.1:c.874G>T	XP_011535776.1:p.Gly292Trp
XM_011537475.1:c.688G>T	XP_011535777.1:p.Gly230Trp
XM_011537476.1:c.526G>T	XP_011535778.1:p.Gly176Trp
XM_011537477.1:c.835G>T	XP_011535779.1:p.Gly279Trp
XM_006719963.3:c.670G>T	XP_006720026.2:p.Gly224Trp
XM_011537474.2:c.919G>T	XP_011535776.2:p.Gly307Trp
XM_011537475.2:c.733G>T	XP_011535777.2:p.Gly245Trp
XM_011537476.2:c.526G>T	XP_011535778.1:p.Gly176Trp
NM_019616.4:c.766G>T MANE Select	NP_062562.1:p.Gly256Trp
NR_051961.2:n.850G>T
NM_001267554.2:c.580G>T	NP_001254483.1:p.Gly194Trp