Canonical Allele Identifier: CA527131339

Gene: F5

Linked Data

• dbSNP Id: rs1388081362
• gnomAD v2: 1-169524376-G-A
• gnomAD v4: 1-169555138-G-A
• MyVariant Identifiers: chr1:g.169524376G>A (hg19) ; chr1:g.169555138G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169555138G>A , CM000663.2:g.169555138G>A	GRCh38
NC_000001.10:g.169524376G>A , CM000663.1:g.169524376G>A	GRCh37
NC_000001.9:g.167791000G>A	NCBI36
NG_011806.1:g.36394C>T , LRG_553:g.36394C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367797.9:c.1118+44C>T MANE Select	ENSP00000356771.3:n.1118+44C>T
ENST00000367796.3:c.1118+44C>T	ENSP00000356770.3:n.1118+44C>T
ENST00000367797.7:c.1118+44C>T	ENSP00000356771.3:n.1118+44C>T
NM_000130.4:c.1118+44C>T , LRG_553t1:c.1118+44C>T	NP_000121.2:n.1118+44C>T
XM_017000660.2:c.707+44C>T	XP_016856149.1:n.707+44C>T
NM_000130.5:c.1118+44C>T MANE Select	NP_000121.2:n.1118+44C>T