Canonical Allele Identifier: CA32435315

Gene: F5

Linked Data

• dbSNP Id: rs1043953682
• gnomAD v2: 1-169499904-T-C
• gnomAD v3: 1-169530666-T-C
• gnomAD v4: 1-169530666-T-C
• MyVariant Identifiers: chr1:g.169499904T>C (hg19) ; chr1:g.169530666T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169530666T>C , CM000663.2:g.169530666T>C	GRCh38
NC_000001.10:g.169499904T>C , CM000663.1:g.169499904T>C	GRCh37
NC_000001.9:g.167766528T>C	NCBI36
NG_011806.1:g.60866A>G , LRG_553:g.60866A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367797.9:c.5208+120A>G MANE Select	ENSP00000356771.3:n.5208+120A>G
ENST00000367796.3:c.5223+120A>G	ENSP00000356770.3:n.5223+120A>G
ENST00000367797.7:c.5208+120A>G	ENSP00000356771.3:n.5208+120A>G
NM_000130.4:c.5208+120A>G , LRG_553t1:c.5208+120A>G	NP_000121.2:n.5208+120A>G
XM_017000660.2:c.4797+120A>G	XP_016856149.1:n.4797+120A>G
NM_000130.5:c.5208+120A>G MANE Select	NP_000121.2:n.5208+120A>G