Canonical Allele Identifier: CA7060170

Gene: F7

Linked Data

• dbSNP Id: rs142547010
• ExAC: 13:113772854 C / T
• gnomAD v2: 13-113772854-C-T
• gnomAD v3: 13-113118540-C-T
• gnomAD v4: 13-113118540-C-T
• MyVariant Identifiers: chr13:g.113772854C>T (hg19) ; chr13:g.113118540C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118540C>T , CM000675.2:g.113118540C>T	GRCh38
NC_000013.10:g.113772854C>T , CM000675.1:g.113772854C>T	GRCh37
NC_000013.9:g.112820855C>T	NCBI36
NG_009258.1:g.742C>T , LRG_548:g.742C>T
NG_009262.1:g.17750C>T , LRG_554:g.17750C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.867C>T MANE Select	ENSP00000329546.4:p.Pro289=
ENST00000346342.7:c.867C>T	ENSP00000329546.3:p.Pro289=
ENST00000375581.3:c.933C>T	ENSP00000364731.3:p.Pro311=
ENST00000541084.5:c.681C>T	ENSP00000442051.2:p.Pro227=
NM_000131.4:c.933C>T , LRG_554t1:c.933C>T	NP_000122.1:p.Pro311=
NM_001267554.1:c.681C>T	NP_001254483.1:p.Pro227=
NM_019616.3:c.867C>T , LRG_554t2:c.867C>T	NP_062562.1:p.Pro289=
NR_051961.1:n.954C>T
XM_006719963.2:c.726C>T	XP_006720026.1:p.Pro242=
XM_011537474.1:c.975C>T	XP_011535776.1:p.Pro325=
XM_011537475.1:c.789C>T	XP_011535777.1:p.Pro263=
XM_011537476.1:c.627C>T	XP_011535778.1:p.Pro209=
XM_011537477.1:c.936C>T	XP_011535779.1:p.Pro312=
XM_006719963.3:c.771C>T	XP_006720026.2:p.Pro257=
XM_011537474.2:c.1020C>T	XP_011535776.2:p.Pro340=
XM_011537475.2:c.834C>T	XP_011535777.2:p.Pro278=
XM_011537476.2:c.627C>T	XP_011535778.1:p.Pro209=
NM_019616.4:c.867C>T MANE Select	NP_062562.1:p.Pro289=
NR_051961.2:n.951C>T
NM_001267554.2:c.681C>T	NP_001254483.1:p.Pro227=