Canonical Allele Identifier: CA527131346

Gene: F5

Linked Data

• dbSNP Id: rs764056433
• gnomAD v2: 1-169524409-C-G
• gnomAD v3: 1-169555171-C-G
• gnomAD v4: 1-169555171-C-G
• MyVariant Identifiers: chr1:g.169524409C>G (hg19) ; chr1:g.169555171C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169555171C>G , CM000663.2:g.169555171C>G	GRCh38
NC_000001.10:g.169524409C>G , CM000663.1:g.169524409C>G	GRCh37
NC_000001.9:g.167791033C>G	NCBI36
NG_011806.1:g.36361G>C , LRG_553:g.36361G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367797.9:c.1118+11G>C MANE Select	ENSP00000356771.3:n.1118+11G>C
ENST00000367796.3:c.1118+11G>C	ENSP00000356770.3:n.1118+11G>C
ENST00000367797.7:c.1118+11G>C	ENSP00000356771.3:n.1118+11G>C
NM_000130.4:c.1118+11G>C , LRG_553t1:c.1118+11G>C	NP_000121.2:n.1118+11G>C
XM_017000660.2:c.707+11G>C	XP_016856149.1:n.707+11G>C
NM_000130.5:c.1118+11G>C MANE Select	NP_000121.2:n.1118+11G>C