Canonical Allele Identifier: CA388786710

Gene: F7

Linked Data

• MyVariant Identifiers: chr13:g.113773124G>C (hg19) ; chr13:g.113118810G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118810G>C , CM000675.2:g.113118810G>C	GRCh38
NC_000013.10:g.113773124G>C , CM000675.1:g.113773124G>C	GRCh37
NC_000013.9:g.112821125G>C	NCBI36
NG_009258.1:g.1012G>C , LRG_548:g.1012G>C
NG_009262.1:g.18020G>C , LRG_554:g.18020G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.1137G>C MANE Select	ENSP00000329546.4:p.Lys379Asn
ENST00000346342.7:c.1137G>C	ENSP00000329546.3:p.Lys379Asn
ENST00000375581.3:c.1203G>C	ENSP00000364731.3:p.Lys401Asn
ENST00000541084.5:c.951G>C	ENSP00000442051.2:p.Lys317Asn
NM_000131.4:c.1203G>C , LRG_554t1:c.1203G>C	NP_000122.1:p.Lys401Asn
NM_001267554.1:c.951G>C	NP_001254483.1:p.Lys317Asn
NM_019616.3:c.1137G>C , LRG_554t2:c.1137G>C	NP_062562.1:p.Lys379Asn
NR_051961.1:n.1224G>C
XM_006719963.2:c.996G>C	XP_006720026.1:p.Lys332Asn
XM_011537474.1:c.1245G>C	XP_011535776.1:p.Lys415Asn
XM_011537475.1:c.1059G>C	XP_011535777.1:p.Lys353Asn
XM_011537476.1:c.897G>C	XP_011535778.1:p.Lys299Asn
XM_011537477.1:c.1206G>C	XP_011535779.1:p.Lys402Asn
XM_006719963.3:c.1041G>C	XP_006720026.2:p.Lys347Asn
XM_011537474.2:c.1290G>C	XP_011535776.2:p.Lys430Asn
XM_011537475.2:c.1104G>C	XP_011535777.2:p.Lys368Asn
XM_011537476.2:c.897G>C	XP_011535778.1:p.Lys299Asn
NM_019616.4:c.1137G>C MANE Select	NP_062562.1:p.Lys379Asn
NR_051961.2:n.1221G>C
NM_001267554.2:c.951G>C	NP_001254483.1:p.Lys317Asn