Canonical Allele Identifier: CA7060229

Gene: F7

Linked Data

• ClinVar Variation Id: 420160
• ClinVar RCV Id: RCV000482463 ; RCV001095705 ; RCV003313784
• dbSNP Id: rs531225271
• ExAC: 13:113773072 C / T
• gnomAD v2: 13-113773072-C-T
• gnomAD v3: 13-113118758-C-T
• gnomAD v4: 13-113118758-C-T
• MyVariant Identifiers: chr13:g.113773072C>T (hg19) ; chr13:g.113118758C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118758C>T , CM000675.2:g.113118758C>T	GRCh38
NC_000013.10:g.113773072C>T , CM000675.1:g.113773072C>T	GRCh37
NC_000013.9:g.112821073C>T	NCBI36
NG_009258.1:g.960C>T , LRG_548:g.960C>T
NG_009262.1:g.17968C>T , LRG_554:g.17968C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.1085C>T MANE Select	ENSP00000329546.4:p.Thr362Met
ENST00000346342.7:c.1085C>T	ENSP00000329546.3:p.Thr362Met
ENST00000375581.3:c.1151C>T	ENSP00000364731.3:p.Thr384Met
ENST00000541084.5:c.899C>T	ENSP00000442051.2:p.Thr300Met
NM_000131.4:c.1151C>T , LRG_554t1:c.1151C>T	NP_000122.1:p.Thr384Met
NM_001267554.1:c.899C>T	NP_001254483.1:p.Thr300Met
NM_019616.3:c.1085C>T , LRG_554t2:c.1085C>T	NP_062562.1:p.Thr362Met
NR_051961.1:n.1172C>T
XM_006719963.2:c.944C>T	XP_006720026.1:p.Thr315Met
XM_011537474.1:c.1193C>T	XP_011535776.1:p.Thr398Met
XM_011537475.1:c.1007C>T	XP_011535777.1:p.Thr336Met
XM_011537476.1:c.845C>T	XP_011535778.1:p.Thr282Met
XM_011537477.1:c.1154C>T	XP_011535779.1:p.Thr385Met
XM_006719963.3:c.989C>T	XP_006720026.2:p.Thr330Met
XM_011537474.2:c.1238C>T	XP_011535776.2:p.Thr413Met
XM_011537475.2:c.1052C>T	XP_011535777.2:p.Thr351Met
XM_011537476.2:c.845C>T	XP_011535778.1:p.Thr282Met
NM_019616.4:c.1085C>T MANE Select	NP_062562.1:p.Thr362Met
NR_051961.2:n.1169C>T
NM_001267554.2:c.899C>T	NP_001254483.1:p.Thr300Met