Canonical Allele Identifier: CA388787204
Gene: F7 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000346342.8:c.1312C>A MANE Select ENSP00000329546.4:p.Leu438Ile
ENST00000346342.7:c.1312C>A ENSP00000329546.3:p.Leu438Ile
ENST00000375581.3:c.1378C>A ENSP00000364731.3:p.Leu460Ile
ENST00000541084.5:c.1126C>A ENSP00000442051.2:p.Leu376Ile
NM_000131.4:c.1378C>A , LRG_554t1:c.1378C>A NP_000122.1:p.Leu460Ile
NM_001267554.1:c.1126C>A NP_001254483.1:p.Leu376Ile
NM_019616.3:c.1312C>A , LRG_554t2:c.1312C>A NP_062562.1:p.Leu438Ile
NR_051961.1:n.1399C>A
XM_006719963.2:c.1171C>A XP_006720026.1:p.Leu391Ile
XM_011537474.1:c.1420C>A XP_011535776.1:p.Leu474Ile
XM_011537475.1:c.1234C>A XP_011535777.1:p.Leu412Ile
XM_011537476.1:c.1072C>A XP_011535778.1:p.Leu358Ile
XM_011537477.1:c.1381C>A XP_011535779.1:p.Leu461Ile
XM_006719963.3:c.1216C>A XP_006720026.2:p.Leu406Ile
XM_011537474.2:c.1465C>A XP_011535776.2:p.Leu489Ile
XM_011537475.2:c.1279C>A XP_011535777.2:p.Leu427Ile
XM_011537476.2:c.1072C>A XP_011535778.1:p.Leu358Ile
NM_019616.4:c.1312C>A MANE Select NP_062562.1:p.Leu438Ile
NR_051961.2:n.1396C>A
NM_001267554.2:c.1126C>A NP_001254483.1:p.Leu376Ile