Canonical Allele Identifier: CA388786368

Gene: F7

Linked Data

• ClinVar Variation Id: 626975
• ClinVar RCV Id: RCV000851661
• dbSNP Id: rs1595080617
• gnomAD v3: 13-113118721-C-T
• gnomAD v4: 13-113118721-C-T
• MyVariant Identifiers: chr13:g.113773035C>T (hg19) ; chr13:g.113118721C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118721C>T , CM000675.2:g.113118721C>T	GRCh38
NC_000013.10:g.113773035C>T , CM000675.1:g.113773035C>T	GRCh37
NC_000013.9:g.112821036C>T	NCBI36
NG_009258.1:g.923C>T , LRG_548:g.923C>T
NG_009262.1:g.17931C>T , LRG_554:g.17931C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.1048C>T MANE Select	ENSP00000329546.4:p.Gln350Ter
ENST00000346342.7:c.1048C>T	ENSP00000329546.3:p.Gln350Ter
ENST00000375581.3:c.1114C>T	ENSP00000364731.3:p.Gln372Ter
ENST00000541084.5:c.862C>T	ENSP00000442051.2:p.Gln288Ter
NM_000131.4:c.1114C>T , LRG_554t1:c.1114C>T	NP_000122.1:p.Gln372Ter
NM_001267554.1:c.862C>T	NP_001254483.1:p.Gln288Ter
NM_019616.3:c.1048C>T , LRG_554t2:c.1048C>T	NP_062562.1:p.Gln350Ter
NR_051961.1:n.1135C>T
XM_006719963.2:c.907C>T	XP_006720026.1:p.Gln303Ter
XM_011537474.1:c.1156C>T	XP_011535776.1:p.Gln386Ter
XM_011537475.1:c.970C>T	XP_011535777.1:p.Gln324Ter
XM_011537476.1:c.808C>T	XP_011535778.1:p.Gln270Ter
XM_011537477.1:c.1117C>T	XP_011535779.1:p.Gln373Ter
XM_006719963.3:c.952C>T	XP_006720026.2:p.Gln318Ter
XM_011537474.2:c.1201C>T	XP_011535776.2:p.Gln401Ter
XM_011537475.2:c.1015C>T	XP_011535777.2:p.Gln339Ter
XM_011537476.2:c.808C>T	XP_011535778.1:p.Gln270Ter
NM_019616.4:c.1048C>T MANE Select	NP_062562.1:p.Gln350Ter
NR_051961.2:n.1132C>T
NM_001267554.2:c.862C>T	NP_001254483.1:p.Gln288Ter