Canonical Allele Identifier: CA485423868

Gene: F7

Linked Data

• dbSNP Id: rs1244609292
• gnomAD v2: 13-113772821-C-T
• gnomAD v3: 13-113118507-C-T
• gnomAD v4: 13-113118507-C-T
• MyVariant Identifiers: chr13:g.113772821C>T (hg19) ; chr13:g.113118507C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118507C>T , CM000675.2:g.113118507C>T	GRCh38
NC_000013.10:g.113772821C>T , CM000675.1:g.113772821C>T	GRCh37
NC_000013.9:g.112820822C>T	NCBI36
NG_009258.1:g.709C>T , LRG_548:g.709C>T
NG_009262.1:g.17717C>T , LRG_554:g.17717C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.834C>T MANE Select	ENSP00000329546.4:p.Asn278=
ENST00000346342.7:c.834C>T	ENSP00000329546.3:p.Asn278=
ENST00000375581.3:c.900C>T	ENSP00000364731.3:p.Asn300=
ENST00000541084.5:c.648C>T	ENSP00000442051.2:p.Asn216=
NM_000131.4:c.900C>T , LRG_554t1:c.900C>T	NP_000122.1:p.Asn300=
NM_001267554.1:c.648C>T	NP_001254483.1:p.Asn216=
NM_019616.3:c.834C>T , LRG_554t2:c.834C>T	NP_062562.1:p.Asn278=
NR_051961.1:n.921C>T
XM_006719963.2:c.693C>T	XP_006720026.1:p.Asn231=
XM_011537474.1:c.942C>T	XP_011535776.1:p.Asn314=
XM_011537475.1:c.756C>T	XP_011535777.1:p.Asn252=
XM_011537476.1:c.594C>T	XP_011535778.1:p.Asn198=
XM_011537477.1:c.903C>T	XP_011535779.1:p.Asn301=
XM_006719963.3:c.738C>T	XP_006720026.2:p.Asn246=
XM_011537474.2:c.987C>T	XP_011535776.2:p.Asn329=
XM_011537475.2:c.801C>T	XP_011535777.2:p.Asn267=
XM_011537476.2:c.594C>T	XP_011535778.1:p.Asn198=
NM_019616.4:c.834C>T MANE Select	NP_062562.1:p.Asn278=
NR_051961.2:n.918C>T
NM_001267554.2:c.648C>T	NP_001254483.1:p.Asn216=