Canonical Allele Identifier: CA7059868
Community Standard Title: NM_019616.4(F7):c.149C>G (p.Ser50Cys)
Gene: F7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.113110774C>G , CM000675.2:g.113110774C>G GRCh38
NC_000013.10:g.113765088C>G , CM000675.1:g.113765088C>G GRCh37
NC_000013.9:g.112813089C>G NCBI36
NG_009262.1:g.9984C>G , LRG_554:g.9984C>G

Transcript Alleles

HGVS Amino-acid Change
NM_019616.4:c.149C>G MANE Select NP_062562.1:p.Ser50Cys
ENST00000346342.8:c.149C>G MANE Select ENSP00000329546.4:p.Ser50Cys
NM_000131.4:c.215C>G , LRG_554t1:c.215C>G NP_000122.1:p.Ser72Cys
NM_001267554.1:c.65-3073C>G NP_001254483.1:n.65-3073C>G
NM_001267554.2:c.65-3073C>G NP_001254483.1:n.65-3073C>G
NM_019616.3:c.149C>G , LRG_554t2:c.149C>G NP_062562.1:p.Ser50Cys
NR_051961.1:n.189C>G
NR_051961.2:n.186C>G
ENST00000346342.7:c.149C>G ENSP00000329546.3:p.Ser50Cys
ENST00000375581.3:c.215C>G ENSP00000364731.3:p.Ser72Cys
ENST00000444337.1:c.135C>G ENSP00000387669.1:p.Leu45=
ENST00000473085.1:n.96C>G
ENST00000479674.1:n.435C>G
ENST00000541084.5:c.65-3073C>G ENSP00000442051.2:n.65-3073C>G
XM_006719963.2:c.149C>G XP_006720026.1:p.Ser50Cys
XM_006719963.3:c.194C>G XP_006720026.2:p.Ser65Cys
XM_011537474.1:c.149C>G XP_011535776.1:p.Ser50Cys
XM_011537474.2:c.194C>G XP_011535776.2:p.Ser65Cys
XM_011537475.1:c.65-3073C>G XP_011535777.1:n.65-3073C>G
XM_011537475.2:c.110-3073C>G XP_011535777.2:n.110-3073C>G
XM_011537477.1:c.135C>G XP_011535779.1:p.Leu45=