Canonical Allele Identifier: CA388784978
Community Standard Title: NM_019616.4(F7):c.580G>C (p.Gly194Arg)
Gene: F7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.113116840G>C , CM000675.2:g.113116840G>C GRCh38
NC_000013.10:g.113771154G>C , CM000675.1:g.113771154G>C GRCh37
NC_000013.9:g.112819155G>C NCBI36
NG_009262.1:g.16050G>C , LRG_554:g.16050G>C

Transcript Alleles

HGVS Amino-acid Change
NM_019616.4:c.580G>C MANE Select NP_062562.1:p.Gly194Arg
ENST00000346342.8:c.580G>C MANE Select ENSP00000329546.4:p.Gly194Arg
NM_000131.4:c.646G>C , LRG_554t1:c.646G>C NP_000122.1:p.Gly216Arg
NM_001267554.1:c.394G>C NP_001254483.1:p.Gly132Arg
NM_001267554.2:c.394G>C NP_001254483.1:p.Gly132Arg
NM_019616.3:c.580G>C , LRG_554t2:c.580G>C NP_062562.1:p.Gly194Arg
NR_051961.1:n.667G>C
NR_051961.2:n.664G>C
ENST00000346342.7:c.580G>C ENSP00000329546.3:p.Gly194Arg
ENST00000375581.3:c.646G>C ENSP00000364731.3:p.Gly216Arg
ENST00000541084.5:c.394G>C ENSP00000442051.2:p.Gly132Arg
XM_006719963.2:c.439G>C XP_006720026.1:p.Gly147Arg
XM_006719963.3:c.484G>C XP_006720026.2:p.Gly162Arg
XM_011537474.1:c.688G>C XP_011535776.1:p.Gly230Arg
XM_011537474.2:c.733G>C XP_011535776.2:p.Gly245Arg
XM_011537475.1:c.502G>C XP_011535777.1:p.Gly168Arg
XM_011537475.2:c.547G>C XP_011535777.2:p.Gly183Arg
XM_011537476.1:c.340G>C XP_011535778.1:p.Gly114Arg
XM_011537476.2:c.340G>C XP_011535778.1:p.Gly114Arg
XM_011537477.1:c.649G>C XP_011535779.1:p.Gly217Arg