Canonical Allele Identifier: CA1234682

Gene: F5

Linked Data

• dbSNP Id: rs751854174
• ExAC: 1:169541632 A / G
• gnomAD v2: 1-169541632-A-G
• gnomAD v3: 1-169572394-A-G
• gnomAD v4: 1-169572394-A-G
• MyVariant Identifiers: chr1:g.169541632A>G (hg19) ; chr1:g.169572394A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169572394A>G , CM000663.2:g.169572394A>G	GRCh38
NC_000001.10:g.169541632A>G , CM000663.1:g.169541632A>G	GRCh37
NC_000001.9:g.167808256A>G	NCBI36
NG_011806.1:g.19138T>C , LRG_553:g.19138T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367797.9:c.251-51T>C MANE Select	ENSP00000356771.3:n.251-51T>C
ENST00000367796.3:c.251-51T>C	ENSP00000356770.3:n.251-51T>C
ENST00000367797.7:c.251-51T>C	ENSP00000356771.3:n.251-51T>C
NM_000130.4:c.251-51T>C , LRG_553t1:c.251-51T>C	NP_000121.2:n.251-51T>C
XM_017000660.2:c.-161-51T>C	XP_016856149.1:n.-161-51T>C
NM_000130.5:c.251-51T>C MANE Select	NP_000121.2:n.251-51T>C