Canonical Allele Identifier: CA388785860
Gene: F7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.113118460G>C , CM000675.2:g.113118460G>C GRCh38
NC_000013.10:g.113772774G>C , CM000675.1:g.113772774G>C GRCh37
NC_000013.9:g.112820775G>C NCBI36
NG_009258.1:g.662G>C , LRG_548:g.662G>C
NG_009262.1:g.17670G>C , LRG_554:g.17670G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000346342.8:c.787G>C MANE Select ENSP00000329546.4:p.Val263Leu
ENST00000346342.7:c.787G>C ENSP00000329546.3:p.Val263Leu
ENST00000375581.3:c.853G>C ENSP00000364731.3:p.Val285Leu
ENST00000541084.5:c.601G>C ENSP00000442051.2:p.Val201Leu
NM_000131.4:c.853G>C , LRG_554t1:c.853G>C NP_000122.1:p.Val285Leu
NM_001267554.1:c.601G>C NP_001254483.1:p.Val201Leu
NM_019616.3:c.787G>C , LRG_554t2:c.787G>C NP_062562.1:p.Val263Leu
NR_051961.1:n.874G>C
XM_006719963.2:c.646G>C XP_006720026.1:p.Val216Leu
XM_011537474.1:c.895G>C XP_011535776.1:p.Val299Leu
XM_011537475.1:c.709G>C XP_011535777.1:p.Val237Leu
XM_011537476.1:c.547G>C XP_011535778.1:p.Val183Leu
XM_011537477.1:c.856G>C XP_011535779.1:p.Val286Leu
XM_006719963.3:c.691G>C XP_006720026.2:p.Val231Leu
XM_011537474.2:c.940G>C XP_011535776.2:p.Val314Leu
XM_011537475.2:c.754G>C XP_011535777.2:p.Val252Leu
XM_011537476.2:c.547G>C XP_011535778.1:p.Val183Leu
NM_019616.4:c.787G>C MANE Select NP_062562.1:p.Val263Leu
NR_051961.2:n.871G>C
NM_001267554.2:c.601G>C NP_001254483.1:p.Val201Leu