Canonical Allele Identifier: CA388785278

Gene: F7

Linked Data

• MyVariant Identifiers: chr13:g.113771830T>C (hg19) ; chr13:g.113117516T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113117516T>C , CM000675.2:g.113117516T>C	GRCh38
NC_000013.10:g.113771830T>C , CM000675.1:g.113771830T>C	GRCh37
NC_000013.9:g.112819831T>C	NCBI36
NG_009262.1:g.16726T>C , LRG_554:g.16726T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.659T>C MANE Select	ENSP00000329546.4:p.Leu220Pro
ENST00000346342.7:c.659T>C	ENSP00000329546.3:p.Leu220Pro
ENST00000375581.3:c.725T>C	ENSP00000364731.3:p.Leu242Pro
ENST00000541084.5:c.473T>C	ENSP00000442051.2:p.Leu158Pro
NM_000131.4:c.725T>C , LRG_554t1:c.725T>C	NP_000122.1:p.Leu242Pro
NM_001267554.1:c.473T>C	NP_001254483.1:p.Leu158Pro
NM_019616.3:c.659T>C , LRG_554t2:c.659T>C	NP_062562.1:p.Leu220Pro
NR_051961.1:n.746T>C
XM_006719963.2:c.518T>C	XP_006720026.1:p.Leu173Pro
XM_011537474.1:c.767T>C	XP_011535776.1:p.Leu256Pro
XM_011537475.1:c.581T>C	XP_011535777.1:p.Leu194Pro
XM_011537476.1:c.419T>C	XP_011535778.1:p.Leu140Pro
XM_011537477.1:c.728T>C	XP_011535779.1:p.Leu243Pro
XM_006719963.3:c.563T>C	XP_006720026.2:p.Leu188Pro
XM_011537474.2:c.812T>C	XP_011535776.2:p.Leu271Pro
XM_011537475.2:c.626T>C	XP_011535777.2:p.Leu209Pro
XM_011537476.2:c.419T>C	XP_011535778.1:p.Leu140Pro
NM_019616.4:c.659T>C MANE Select	NP_062562.1:p.Leu220Pro
NR_051961.2:n.743T>C
NM_001267554.2:c.473T>C	NP_001254483.1:p.Leu158Pro