Canonical Allele Identifier: CA7060173

Gene: F7

Linked Data

• dbSNP Id: rs201991361
• ExAC: 13:113772855 G / C
• gnomAD v2: 13-113772855-G-C
• gnomAD v4: 13-113118541-G-C
• MyVariant Identifiers: chr13:g.113772855G>C (hg19) ; chr13:g.113118541G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118541G>C , CM000675.2:g.113118541G>C	GRCh38
NC_000013.10:g.113772855G>C , CM000675.1:g.113772855G>C	GRCh37
NC_000013.9:g.112820856G>C	NCBI36
NG_009258.1:g.743G>C , LRG_548:g.743G>C
NG_009262.1:g.17751G>C , LRG_554:g.17751G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000346342.8:c.868G>C MANE Select	ENSP00000329546.4:p.Val290Leu
ENST00000346342.7:c.868G>C	ENSP00000329546.3:p.Val290Leu
ENST00000375581.3:c.934G>C	ENSP00000364731.3:p.Val312Leu
ENST00000541084.5:c.682G>C	ENSP00000442051.2:p.Val228Leu
NM_000131.4:c.934G>C , LRG_554t1:c.934G>C	NP_000122.1:p.Val312Leu
NM_001267554.1:c.682G>C	NP_001254483.1:p.Val228Leu
NM_019616.3:c.868G>C , LRG_554t2:c.868G>C	NP_062562.1:p.Val290Leu
NR_051961.1:n.955G>C
XM_006719963.2:c.727G>C	XP_006720026.1:p.Val243Leu
XM_011537474.1:c.976G>C	XP_011535776.1:p.Val326Leu
XM_011537475.1:c.790G>C	XP_011535777.1:p.Val264Leu
XM_011537476.1:c.628G>C	XP_011535778.1:p.Val210Leu
XM_011537477.1:c.937G>C	XP_011535779.1:p.Val313Leu
XM_006719963.3:c.772G>C	XP_006720026.2:p.Val258Leu
XM_011537474.2:c.1021G>C	XP_011535776.2:p.Val341Leu
XM_011537475.2:c.835G>C	XP_011535777.2:p.Val279Leu
XM_011537476.2:c.628G>C	XP_011535778.1:p.Val210Leu
NM_019616.4:c.868G>C MANE Select	NP_062562.1:p.Val290Leu
NR_051961.2:n.952G>C
NM_001267554.2:c.682G>C	NP_001254483.1:p.Val228Leu