Canonical Allele Identifier: CA7060242

Gene: F7

Linked Data

• dbSNP Id: rs745638248
• ExAC: 13:113773154 C / T
• gnomAD v2: 13-113773154-C-T
• gnomAD v4: 13-113118840-C-T
• MyVariant Identifiers: chr13:g.113773154C>T (hg19) ; chr13:g.113118840C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118840C>T , CM000675.2:g.113118840C>T	GRCh38
NC_000013.10:g.113773154C>T , CM000675.1:g.113773154C>T	GRCh37
NC_000013.9:g.112821155C>T	NCBI36
NG_009258.1:g.1042C>T , LRG_548:g.1042C>T
NG_009262.1:g.18050C>T , LRG_554:g.18050C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.1167C>T MANE Select	ENSP00000329546.4:p.His389=
ENST00000346342.7:c.1167C>T	ENSP00000329546.3:p.His389=
ENST00000375581.3:c.1233C>T	ENSP00000364731.3:p.His411=
ENST00000541084.5:c.981C>T	ENSP00000442051.2:p.His327=
NM_000131.4:c.1233C>T , LRG_554t1:c.1233C>T	NP_000122.1:p.His411=
NM_001267554.1:c.981C>T	NP_001254483.1:p.His327=
NM_019616.3:c.1167C>T , LRG_554t2:c.1167C>T	NP_062562.1:p.His389=
NR_051961.1:n.1254C>T
XM_006719963.2:c.1026C>T	XP_006720026.1:p.His342=
XM_011537474.1:c.1275C>T	XP_011535776.1:p.His425=
XM_011537475.1:c.1089C>T	XP_011535777.1:p.His363=
XM_011537476.1:c.927C>T	XP_011535778.1:p.His309=
XM_011537477.1:c.1236C>T	XP_011535779.1:p.His412=
XM_006719963.3:c.1071C>T	XP_006720026.2:p.His357=
XM_011537474.2:c.1320C>T	XP_011535776.2:p.His440=
XM_011537475.2:c.1134C>T	XP_011535777.2:p.His378=
XM_011537476.2:c.927C>T	XP_011535778.1:p.His309=
NM_019616.4:c.1167C>T MANE Select	NP_062562.1:p.His389=
NR_051961.2:n.1251C>T
NM_001267554.2:c.981C>T	NP_001254483.1:p.His327=