Canonical Allele Identifier: CA7060689

Gene: F10

Linked Data

• ClinVar Variation Id: 716179
• ClinVar RCV Id: RCV000888776 ; RCV001114726
• dbSNP Id: rs142699098
• ExAC: 13:113803479 G / C
• gnomAD v2: 13-113803479-G-C
• gnomAD v3: 13-113149165-G-C
• gnomAD v4: 13-113149165-G-C
• MyVariant Identifiers: chr13:g.113803479G>C (hg19) ; chr13:g.113149165G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113149165G>C , CM000675.2:g.113149165G>C	GRCh38
NC_000013.10:g.113803479G>C , CM000675.1:g.113803479G>C	GRCh37
NC_000013.9:g.112851480G>C	NCBI36
NG_009258.1:g.31367G>C , LRG_548:g.31367G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000375559.8:c.1115G>C MANE Select	ENSP00000364709.3:p.Arg372Pro
ENST00000375551.7:c.*106G>C	ENSP00000364701.3:n.*106G>C
ENST00000375559.7:c.1115G>C	ENSP00000364709.3:p.Arg372Pro
ENST00000409306.5:c.*106G>C	ENSP00000387092.1:n.*106G>C
NM_000504.3:c.1115G>C , LRG_548t1:c.1115G>C	NP_000495.1:p.Arg372Pro
NM_001312674.1:c.983G>C	NP_001299603.1:p.Arg328Pro
NM_001312675.1:c.*106G>C	NP_001299604.1:n.*106G>C
NM_000504.4:c.1115G>C MANE Select	NP_000495.1:p.Arg372Pro
NM_001312674.2:c.983G>C	NP_001299603.1:p.Arg328Pro
NM_001312675.2:c.*106G>C	NP_001299604.1:n.*106G>C