Canonical Allele Identifier: CA388782311

Gene: F7

Linked Data

• MyVariant Identifiers: chr13:g.113768218T>C (hg19) ; chr13:g.113113904T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113113904T>C , CM000675.2:g.113113904T>C	GRCh38
NC_000013.10:g.113768218T>C , CM000675.1:g.113768218T>C	GRCh37
NC_000013.9:g.112816219T>C	NCBI36
NG_009262.1:g.13114T>C , LRG_554:g.13114T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.308T>C MANE Select	ENSP00000329546.4:p.Leu103Pro
ENST00000346342.7:c.308T>C	ENSP00000329546.3:p.Leu103Pro
ENST00000375581.3:c.374T>C	ENSP00000364731.3:p.Leu125Pro
ENST00000444337.1:c.*116T>C	ENSP00000387669.1:n.*116T>C
ENST00000473085.1:n.255T>C
ENST00000479674.1:n.641T>C
ENST00000541084.5:c.122T>C	ENSP00000442051.2:p.Leu41Pro
NM_000131.4:c.374T>C , LRG_554t1:c.374T>C	NP_000122.1:p.Leu125Pro
NM_001267554.1:c.122T>C	NP_001254483.1:p.Leu41Pro
NM_019616.3:c.308T>C , LRG_554t2:c.308T>C	NP_062562.1:p.Leu103Pro
NR_051961.1:n.395T>C
XM_006719963.2:c.308T>C	XP_006720026.1:p.Leu103Pro
XM_011537474.1:c.308T>C	XP_011535776.1:p.Leu103Pro
XM_011537475.1:c.122T>C	XP_011535777.1:p.Leu41Pro
XM_011537477.1:c.269T>C	XP_011535779.1:p.Leu90Pro
XM_006719963.3:c.353T>C	XP_006720026.2:p.Leu118Pro
XM_011537474.2:c.353T>C	XP_011535776.2:p.Leu118Pro
XM_011537475.2:c.167T>C	XP_011535777.2:p.Leu56Pro
NM_019616.4:c.308T>C MANE Select	NP_062562.1:p.Leu103Pro
NR_051961.2:n.392T>C
NM_001267554.2:c.122T>C	NP_001254483.1:p.Leu41Pro