Canonical Allele Identifier: CA388786650

Gene: F7

Linked Data

• MyVariant Identifiers: chr13:g.113773112G>C (hg19) ; chr13:g.113118798G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118798G>C , CM000675.2:g.113118798G>C	GRCh38
NC_000013.10:g.113773112G>C , CM000675.1:g.113773112G>C	GRCh37
NC_000013.9:g.112821113G>C	NCBI36
NG_009258.1:g.1000G>C , LRG_548:g.1000G>C
NG_009262.1:g.18008G>C , LRG_554:g.18008G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.1125G>C MANE Select	ENSP00000329546.4:p.Lys375Asn
ENST00000346342.7:c.1125G>C	ENSP00000329546.3:p.Lys375Asn
ENST00000375581.3:c.1191G>C	ENSP00000364731.3:p.Lys397Asn
ENST00000541084.5:c.939G>C	ENSP00000442051.2:p.Lys313Asn
NM_000131.4:c.1191G>C , LRG_554t1:c.1191G>C	NP_000122.1:p.Lys397Asn
NM_001267554.1:c.939G>C	NP_001254483.1:p.Lys313Asn
NM_019616.3:c.1125G>C , LRG_554t2:c.1125G>C	NP_062562.1:p.Lys375Asn
NR_051961.1:n.1212G>C
XM_006719963.2:c.984G>C	XP_006720026.1:p.Lys328Asn
XM_011537474.1:c.1233G>C	XP_011535776.1:p.Lys411Asn
XM_011537475.1:c.1047G>C	XP_011535777.1:p.Lys349Asn
XM_011537476.1:c.885G>C	XP_011535778.1:p.Lys295Asn
XM_011537477.1:c.1194G>C	XP_011535779.1:p.Lys398Asn
XM_006719963.3:c.1029G>C	XP_006720026.2:p.Lys343Asn
XM_011537474.2:c.1278G>C	XP_011535776.2:p.Lys426Asn
XM_011537475.2:c.1092G>C	XP_011535777.2:p.Lys364Asn
XM_011537476.2:c.885G>C	XP_011535778.1:p.Lys295Asn
NM_019616.4:c.1125G>C MANE Select	NP_062562.1:p.Lys375Asn
NR_051961.2:n.1209G>C
NM_001267554.2:c.939G>C	NP_001254483.1:p.Lys313Asn