Canonical Allele Identifier: CA1138598420

Gene: F8

Linked Data

• dbSNP Id: rs2072705206
• gnomAD v3: X-154863030-G-C
• gnomAD v4: X-154863030-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154863030G>C , CM000685.2:g.154863030G>C	GRCh38
NC_000023.10:g.154091305G>C , CM000685.1:g.154091305G>C	GRCh37
NC_000023.9:g.153744499G>C	NCBI36
NG_011403.1:g.164694C>G
NG_011403.2:g.164694C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000360256.9:c.6574+53C>G MANE Select	ENSP00000353393.4:n.6574+53C>G
ENST00000644698.1:c.307+53C>G	ENSP00000495706.1:n.307+53C>G
ENST00000330287.10:c.169+53C>G	ENSP00000327895.6:n.169+53C>G
ENST00000360256.8:c.6574+53C>G	ENSP00000353393.4:n.6574+53C>G
NM_000132.3:c.6574+53C>G	NP_000123.1:n.6574+53C>G
NM_019863.2:c.169+53C>G	NP_063916.1:n.169+53C>G
XM_011531126.1:c.6469+53C>G	XP_011529428.1:n.6469+53C>G
NM_000132.4:c.6574+53C>G MANE Select	NP_000123.1:n.6574+53C>G
NM_019863.3:c.169+53C>G	NP_063916.1:n.169+53C>G