Canonical Allele Identifier: CA7060022
Community Standard Title: NM_019616.4(F7):c.615+1G>T
Gene: F7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.113116876G>T , CM000675.2:g.113116876G>T GRCh38
NC_000013.10:g.113771190G>T , CM000675.1:g.113771190G>T GRCh37
NC_000013.9:g.112819191G>T NCBI36
NG_009262.1:g.16086G>T , LRG_554:g.16086G>T

Transcript Alleles

HGVS Amino-acid Change
NM_019616.4:c.615+1G>T MANE Select NP_062562.1:n.615+1G>T
ENST00000346342.8:c.615+1G>T MANE Select ENSP00000329546.4:n.615+1G>T
NM_000131.4:c.681+1G>T , LRG_554t1:c.681+1G>T NP_000122.1:n.681+1G>T
NM_001267554.1:c.429+1G>T NP_001254483.1:n.429+1G>T
NM_001267554.2:c.429+1G>T NP_001254483.1:n.429+1G>T
NM_019616.3:c.615+1G>T , LRG_554t2:c.615+1G>T NP_062562.1:n.615+1G>T
NR_051961.1:n.702+1G>T
NR_051961.2:n.699+1G>T
ENST00000346342.7:c.615+1G>T ENSP00000329546.3:n.615+1G>T
ENST00000375581.3:c.681+1G>T ENSP00000364731.3:n.681+1G>T
ENST00000541084.5:c.429+1G>T ENSP00000442051.2:n.429+1G>T
XM_006719963.2:c.474+1G>T XP_006720026.1:n.474+1G>T
XM_006719963.3:c.519+1G>T XP_006720026.2:n.519+1G>T
XM_011537474.1:c.723+1G>T XP_011535776.1:n.723+1G>T
XM_011537474.2:c.768+1G>T XP_011535776.2:n.768+1G>T
XM_011537475.1:c.537+1G>T XP_011535777.1:n.537+1G>T
XM_011537475.2:c.582+1G>T XP_011535777.2:n.582+1G>T
XM_011537476.1:c.375+1G>T XP_011535778.1:n.375+1G>T
XM_011537476.2:c.375+1G>T XP_011535778.1:n.375+1G>T
XM_011537477.1:c.684+1G>T XP_011535779.1:n.684+1G>T