Canonical Allele Identifier: CA256461968

Gene: F7

Linked Data

• dbSNP Id: rs1029074080
• gnomAD v4: 13-113118978-A-G
• COSMIC: COSM4682228
• MyVariant Identifiers: chr13:g.113773292A>G (hg19) ; chr13:g.113118978A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118978A>G , CM000675.2:g.113118978A>G	GRCh38
NC_000013.10:g.113773292A>G , CM000675.1:g.113773292A>G	GRCh37
NC_000013.9:g.112821293A>G	NCBI36
NG_009258.1:g.1180A>G , LRG_548:g.1180A>G
NG_009262.1:g.18188A>G , LRG_554:g.18188A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.1305A>G MANE Select	ENSP00000329546.4:p.Pro435=
ENST00000346342.7:c.1305A>G	ENSP00000329546.3:p.Pro435=
ENST00000375581.3:c.1371A>G	ENSP00000364731.3:p.Pro457=
ENST00000541084.5:c.1119A>G	ENSP00000442051.2:p.Pro373=
NM_000131.4:c.1371A>G , LRG_554t1:c.1371A>G	NP_000122.1:p.Pro457=
NM_001267554.1:c.1119A>G	NP_001254483.1:p.Pro373=
NM_019616.3:c.1305A>G , LRG_554t2:c.1305A>G	NP_062562.1:p.Pro435=
NR_051961.1:n.1392A>G
XM_006719963.2:c.1164A>G	XP_006720026.1:p.Pro388=
XM_011537474.1:c.1413A>G	XP_011535776.1:p.Pro471=
XM_011537475.1:c.1227A>G	XP_011535777.1:p.Pro409=
XM_011537476.1:c.1065A>G	XP_011535778.1:p.Pro355=
XM_011537477.1:c.1374A>G	XP_011535779.1:p.Pro458=
XM_006719963.3:c.1209A>G	XP_006720026.2:p.Pro403=
XM_011537474.2:c.1458A>G	XP_011535776.2:p.Pro486=
XM_011537475.2:c.1272A>G	XP_011535777.2:p.Pro424=
XM_011537476.2:c.1065A>G	XP_011535778.1:p.Pro355=
NM_019616.4:c.1305A>G MANE Select	NP_062562.1:p.Pro435=
NR_051961.2:n.1389A>G
NM_001267554.2:c.1119A>G	NP_001254483.1:p.Pro373=