Canonical Allele Identifier: CA7060647

Gene: F10

Linked Data

• dbSNP Id: rs371817680
• ExAC: 13:113803322 G / C
• gnomAD v2: 13-113803322-G-C
• gnomAD v3: 13-113149008-G-C
• gnomAD v4: 13-113149008-G-C
• MyVariant Identifiers: chr13:g.113803322G>C (hg19) ; chr13:g.113149008G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113149008G>C , CM000675.2:g.113149008G>C	GRCh38
NC_000013.10:g.113803322G>C , CM000675.1:g.113803322G>C	GRCh37
NC_000013.9:g.112851323G>C	NCBI36
NG_009258.1:g.31210G>C , LRG_548:g.31210G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375559.8:c.958G>C MANE Select	ENSP00000364709.3:p.Asp320His
ENST00000375551.7:c.948G>C	ENSP00000364701.3:p.Met316Ile
ENST00000375559.7:c.958G>C	ENSP00000364709.3:p.Asp320His
ENST00000409306.5:c.954G>C	ENSP00000387092.1:p.Met318Ile
NM_000504.3:c.958G>C , LRG_548t1:c.958G>C	NP_000495.1:p.Asp320His
NM_001312674.1:c.826G>C	NP_001299603.1:p.Asp276His
NM_001312675.1:c.948G>C	NP_001299604.1:p.Met316Ile
NM_000504.4:c.958G>C MANE Select	NP_000495.1:p.Asp320His
NM_001312674.2:c.826G>C	NP_001299603.1:p.Asp276His
NM_001312675.2:c.948G>C	NP_001299604.1:p.Met316Ile