Canonical Allele Identifier: CA388785892

Gene: F7

Linked Data

• MyVariant Identifiers: chr13:g.113772790T>C (hg19) ; chr13:g.113118476T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118476T>C , CM000675.2:g.113118476T>C	GRCh38
NC_000013.10:g.113772790T>C , CM000675.1:g.113772790T>C	GRCh37
NC_000013.9:g.112820791T>C	NCBI36
NG_009258.1:g.678T>C , LRG_548:g.678T>C
NG_009262.1:g.17686T>C , LRG_554:g.17686T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.803T>C MANE Select	ENSP00000329546.4:p.Ile268Thr
ENST00000346342.7:c.803T>C	ENSP00000329546.3:p.Ile268Thr
ENST00000375581.3:c.869T>C	ENSP00000364731.3:p.Ile290Thr
ENST00000541084.5:c.617T>C	ENSP00000442051.2:p.Ile206Thr
NM_000131.4:c.869T>C , LRG_554t1:c.869T>C	NP_000122.1:p.Ile290Thr
NM_001267554.1:c.617T>C	NP_001254483.1:p.Ile206Thr
NM_019616.3:c.803T>C , LRG_554t2:c.803T>C	NP_062562.1:p.Ile268Thr
NR_051961.1:n.890T>C
XM_006719963.2:c.662T>C	XP_006720026.1:p.Ile221Thr
XM_011537474.1:c.911T>C	XP_011535776.1:p.Ile304Thr
XM_011537475.1:c.725T>C	XP_011535777.1:p.Ile242Thr
XM_011537476.1:c.563T>C	XP_011535778.1:p.Ile188Thr
XM_011537477.1:c.872T>C	XP_011535779.1:p.Ile291Thr
XM_006719963.3:c.707T>C	XP_006720026.2:p.Ile236Thr
XM_011537474.2:c.956T>C	XP_011535776.2:p.Ile319Thr
XM_011537475.2:c.770T>C	XP_011535777.2:p.Ile257Thr
XM_011537476.2:c.563T>C	XP_011535778.1:p.Ile188Thr
NM_019616.4:c.803T>C MANE Select	NP_062562.1:p.Ile268Thr
NR_051961.2:n.887T>C
NM_001267554.2:c.617T>C	NP_001254483.1:p.Ile206Thr