Canonical Allele Identifier: CA380265274

Gene: F2

Linked Data

• gnomAD v4: 11-46726040-G-C
• MyVariant Identifiers: chr11:g.46747590G>C (hg19) ; chr11:g.46726040G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46726040G>C , CM000673.2:g.46726040G>C	GRCh38
NC_000011.9:g.46747590G>C , CM000673.1:g.46747590G>C	GRCh37
NC_000011.8:g.46704166G>C	NCBI36
NG_008953.1:g.11848G>C , LRG_551:g.11848G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311907.10:c.741G>C MANE Select	ENSP00000308541.5:p.Lys247Asn
ENST00000311907.9:c.741G>C	ENSP00000308541.5:p.Lys247Asn
ENST00000442468.1:c.711G>C	ENSP00000387413.1:p.Lys237Asn
ENST00000490274.1:n.521G>C
ENST00000530231.5:c.741G>C	ENSP00000433907.1:p.Lys247Asn
NM_000506.3:c.741G>C	NP_000497.1:p.Lys247Asn
NM_000506.4:c.741G>C , LRG_551t1:c.741G>C	NP_000497.1:p.Lys247Asn
NM_001311257.1:c.693G>C	NP_001298186.1:p.Lys231Asn
XR_428840.2:n.785G>C
XR_428840.4:n.776G>C
NM_000506.5:c.741G>C MANE Select	NP_000497.1:p.Lys247Asn
NM_001311257.2:c.693G>C	NP_001298186.1:p.Lys231Asn