Canonical Allele Identifier: CA485020398

Gene: F7

Linked Data

• dbSNP Id: rs1340729232
• gnomAD v2: 13-113768246-T-C
• gnomAD v4: 13-113113932-T-C
• MyVariant Identifiers: chr13:g.113768246T>C (hg19) ; chr13:g.113113932T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113113932T>C , CM000675.2:g.113113932T>C	GRCh38
NC_000013.10:g.113768246T>C , CM000675.1:g.113768246T>C	GRCh37
NC_000013.9:g.112816247T>C	NCBI36
NG_009262.1:g.13142T>C , LRG_554:g.13142T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.336T>C MANE Select	ENSP00000329546.4:p.Pro112=
ENST00000346342.7:c.336T>C	ENSP00000329546.3:p.Pro112=
ENST00000375581.3:c.402T>C	ENSP00000364731.3:p.Pro134=
ENST00000444337.1:c.*144T>C	ENSP00000387669.1:n.*144T>C
ENST00000473085.1:n.283T>C
ENST00000479674.1:n.669T>C
ENST00000541084.5:c.150T>C	ENSP00000442051.2:p.Pro50=
NM_000131.4:c.402T>C , LRG_554t1:c.402T>C	NP_000122.1:p.Pro134=
NM_001267554.1:c.150T>C	NP_001254483.1:p.Pro50=
NM_019616.3:c.336T>C , LRG_554t2:c.336T>C	NP_062562.1:p.Pro112=
NR_051961.1:n.423T>C
XM_006719963.2:c.336T>C	XP_006720026.1:p.Pro112=
XM_011537474.1:c.336T>C	XP_011535776.1:p.Pro112=
XM_011537475.1:c.150T>C	XP_011535777.1:p.Pro50=
XM_011537477.1:c.297T>C	XP_011535779.1:p.Pro99=
XM_006719963.3:c.381T>C	XP_006720026.2:p.Pro127=
XM_011537474.2:c.381T>C	XP_011535776.2:p.Pro127=
XM_011537475.2:c.195T>C	XP_011535777.2:p.Pro65=
NM_019616.4:c.336T>C MANE Select	NP_062562.1:p.Pro112=
NR_051961.2:n.420T>C
NM_001267554.2:c.150T>C	NP_001254483.1:p.Pro50=