Canonical Allele Identifier: CA388794334

Gene: F10

Linked Data

• gnomAD v4: 13-113149394-G-C
• MyVariant Identifiers: chr13:g.113803708G>C (hg19) ; chr13:g.113149394G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113149394G>C , CM000675.2:g.113149394G>C	GRCh38
NC_000013.10:g.113803708G>C , CM000675.1:g.113803708G>C	GRCh37
NC_000013.9:g.112851709G>C	NCBI36
NG_009258.1:g.31596G>C , LRG_548:g.31596G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375559.8:c.1344G>C MANE Select	ENSP00000364709.3:p.Lys448Asn
ENST00000375551.7:c.*335G>C	ENSP00000364701.3:n.*335G>C
ENST00000375559.7:c.1344G>C	ENSP00000364709.3:p.Lys448Asn
ENST00000409306.5:c.*335G>C	ENSP00000387092.1:n.*335G>C
NM_000504.3:c.1344G>C , LRG_548t1:c.1344G>C	NP_000495.1:p.Lys448Asn
NM_001312674.1:c.1212G>C	NP_001299603.1:p.Lys404Asn
NM_001312675.1:c.*335G>C	NP_001299604.1:n.*335G>C
NM_000504.4:c.1344G>C MANE Select	NP_000495.1:p.Lys448Asn
NM_001312674.2:c.1212G>C	NP_001299603.1:p.Lys404Asn
NM_001312675.2:c.*335G>C	NP_001299604.1:n.*335G>C