Canonical Allele Identifier: CA343128845

Gene: F5

Linked Data

• COSMIC: COSM384191
• MyVariant Identifiers: chr1:g.169521915C>G (hg19) ; chr1:g.169552677C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169552677C>G , CM000663.2:g.169552677C>G	GRCh38
NC_000001.10:g.169521915C>G , CM000663.1:g.169521915C>G	GRCh37
NC_000001.9:g.167788539C>G	NCBI36
NG_011806.1:g.38855G>C , LRG_553:g.38855G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367797.9:c.1176G>C MANE Select	ENSP00000356771.3:p.Lys392Asn
ENST00000367796.3:c.1176G>C	ENSP00000356770.3:p.Lys392Asn
ENST00000367797.7:c.1176G>C	ENSP00000356771.3:p.Lys392Asn
NM_000130.4:c.1176G>C , LRG_553t1:c.1176G>C	NP_000121.2:p.Lys392Asn
XM_017000660.2:c.765G>C	XP_016856149.1:p.Lys255Asn
NM_000130.5:c.1176G>C MANE Select	NP_000121.2:p.Lys392Asn