Canonical Allele Identifier: CA414902802
Community Standard Title: NM_000132.4(F8):c.6900+1G>C
Gene: F8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154860431C>G , CM000685.2:g.154860431C>G GRCh38
NC_000023.10:g.154088706C>G , CM000685.1:g.154088706C>G GRCh37
NC_000023.9:g.153741900C>G NCBI36
NG_011403.1:g.167293G>C
NG_011403.2:g.167293G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000132.4:c.6900+1G>C MANE Select NP_000123.1:n.6900+1G>C
ENST00000360256.9:c.6900+1G>C MANE Select ENSP00000353393.4:n.6900+1G>C
NM_000132.3:c.6900+1G>C NP_000123.1:n.6900+1G>C
NM_019863.2:c.495+1G>C NP_063916.1:n.495+1G>C
NM_019863.3:c.495+1G>C NP_063916.1:n.495+1G>C
ENST00000330287.10:c.495+1G>C ENSP00000327895.6:n.495+1G>C
ENST00000360256.8:c.6900+1G>C ENSP00000353393.4:n.6900+1G>C
ENST00000644698.1:c.633+1G>C ENSP00000495706.1:n.633+1G>C
XM_011531126.1:c.6795+1G>C XP_011529428.1:n.6795+1G>C