Canonical Allele Identifier: CA612690342

Gene: F7

Linked Data

• dbSNP Id: rs1374549437
• gnomAD v2: 13-113768114-C-A
• gnomAD v3: 13-113113800-C-A
• gnomAD v4: 13-113113800-C-A
• MyVariant Identifiers: chr13:g.113768114C>A (hg19) ; chr13:g.113113800C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113113800C>A , CM000675.2:g.113113800C>A	GRCh38
NC_000013.10:g.113768114C>A , CM000675.1:g.113768114C>A	GRCh37
NC_000013.9:g.112816115C>A	NCBI36
NG_009262.1:g.13010C>A , LRG_554:g.13010C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000346342.8:c.250+24C>A MANE Select	ENSP00000329546.4:n.250+24C>A
ENST00000346342.7:c.250+24C>A	ENSP00000329546.3:n.250+24C>A
ENST00000375581.3:c.316+24C>A	ENSP00000364731.3:n.316+24C>A
ENST00000444337.1:c.*12C>A	ENSP00000387669.1:n.*12C>A
ENST00000473085.1:n.197+24C>A
ENST00000479674.1:n.537C>A
ENST00000541084.5:c.65-47C>A	ENSP00000442051.2:n.65-47C>A
NM_000131.4:c.316+24C>A , LRG_554t1:c.316+24C>A	NP_000122.1:n.316+24C>A
NM_001267554.1:c.65-47C>A	NP_001254483.1:n.65-47C>A
NM_019616.3:c.250+24C>A , LRG_554t2:c.250+24C>A	NP_062562.1:n.250+24C>A
NR_051961.1:n.291C>A
XM_006719963.2:c.250+24C>A	XP_006720026.1:n.250+24C>A
XM_011537474.1:c.250+24C>A	XP_011535776.1:n.250+24C>A
XM_011537475.1:c.65-47C>A	XP_011535777.1:n.65-47C>A
XM_011537477.1:c.212-47C>A	XP_011535779.1:n.212-47C>A
XM_006719963.3:c.295+24C>A	XP_006720026.2:n.295+24C>A
XM_011537474.2:c.295+24C>A	XP_011535776.2:n.295+24C>A
XM_011537475.2:c.110-47C>A	XP_011535777.2:n.110-47C>A
NM_019616.4:c.250+24C>A MANE Select	NP_062562.1:n.250+24C>A
NR_051961.2:n.288C>A
NM_001267554.2:c.65-47C>A	NP_001254483.1:n.65-47C>A