Canonical Allele Identifier: CA380269401

Gene: F2

Linked Data

• dbSNP Id: rs1592414252
• gnomAD v4: 11-46728042-G-C
• MyVariant Identifiers: chr11:g.46749592G>C (hg19) ; chr11:g.46728042G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46728042G>C , CM000673.2:g.46728042G>C	GRCh38
NC_000011.9:g.46749592G>C , CM000673.1:g.46749592G>C	GRCh37
NC_000011.8:g.46706168G>C	NCBI36
NG_008953.1:g.13850G>C , LRG_551:g.13850G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311907.10:c.1177G>C MANE Select	ENSP00000308541.5:p.Ala393Pro
ENST00000311907.9:c.1177G>C	ENSP00000308541.5:p.Ala393Pro
ENST00000530231.5:c.1177G>C	ENSP00000433907.1:p.Ala393Pro
NM_000506.3:c.1177G>C	NP_000497.1:p.Ala393Pro
NM_000506.4:c.1177G>C , LRG_551t1:c.1177G>C	NP_000497.1:p.Ala393Pro
NM_001311257.1:c.1129G>C	NP_001298186.1:p.Ala377Pro
XR_428840.2:n.1221G>C
XR_428840.4:n.1212G>C
NM_000506.5:c.1177G>C MANE Select	NP_000497.1:p.Ala393Pro
NM_001311257.2:c.1129G>C	NP_001298186.1:p.Ala377Pro