Canonical Allele Identifier: CA388787205

Gene: F7

Linked Data

• gnomAD v4: 13-113118985-C-G
• MyVariant Identifiers: chr13:g.113773299C>G (hg19) ; chr13:g.113118985C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118985C>G , CM000675.2:g.113118985C>G	GRCh38
NC_000013.10:g.113773299C>G , CM000675.1:g.113773299C>G	GRCh37
NC_000013.9:g.112821300C>G	NCBI36
NG_009258.1:g.1187C>G , LRG_548:g.1187C>G
NG_009262.1:g.18195C>G , LRG_554:g.18195C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.1312C>G MANE Select	ENSP00000329546.4:p.Leu438Val
ENST00000346342.7:c.1312C>G	ENSP00000329546.3:p.Leu438Val
ENST00000375581.3:c.1378C>G	ENSP00000364731.3:p.Leu460Val
ENST00000541084.5:c.1126C>G	ENSP00000442051.2:p.Leu376Val
NM_000131.4:c.1378C>G , LRG_554t1:c.1378C>G	NP_000122.1:p.Leu460Val
NM_001267554.1:c.1126C>G	NP_001254483.1:p.Leu376Val
NM_019616.3:c.1312C>G , LRG_554t2:c.1312C>G	NP_062562.1:p.Leu438Val
NR_051961.1:n.1399C>G
XM_006719963.2:c.1171C>G	XP_006720026.1:p.Leu391Val
XM_011537474.1:c.1420C>G	XP_011535776.1:p.Leu474Val
XM_011537475.1:c.1234C>G	XP_011535777.1:p.Leu412Val
XM_011537476.1:c.1072C>G	XP_011535778.1:p.Leu358Val
XM_011537477.1:c.1381C>G	XP_011535779.1:p.Leu461Val
XM_006719963.3:c.1216C>G	XP_006720026.2:p.Leu406Val
XM_011537474.2:c.1465C>G	XP_011535776.2:p.Leu489Val
XM_011537475.2:c.1279C>G	XP_011535777.2:p.Leu427Val
XM_011537476.2:c.1072C>G	XP_011535778.1:p.Leu358Val
NM_019616.4:c.1312C>G MANE Select	NP_062562.1:p.Leu438Val
NR_051961.2:n.1396C>G
NM_001267554.2:c.1126C>G	NP_001254483.1:p.Leu376Val