Canonical Allele Identifier: CA7059918

Gene: F7

Linked Data

• dbSNP Id: rs576456456
• ExAC: 13:113768228 T / C
• gnomAD v2: 13-113768228-T-C
• gnomAD v3: 13-113113914-T-C
• gnomAD v4: 13-113113914-T-C
• MyVariant Identifiers: chr13:g.113768228T>C (hg19) ; chr13:g.113113914T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113113914T>C , CM000675.2:g.113113914T>C	GRCh38
NC_000013.10:g.113768228T>C , CM000675.1:g.113768228T>C	GRCh37
NC_000013.9:g.112816229T>C	NCBI36
NG_009262.1:g.13124T>C , LRG_554:g.13124T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.318T>C MANE Select	ENSP00000329546.4:p.Tyr106=
ENST00000346342.7:c.318T>C	ENSP00000329546.3:p.Tyr106=
ENST00000375581.3:c.384T>C	ENSP00000364731.3:p.Tyr128=
ENST00000444337.1:c.*126T>C	ENSP00000387669.1:n.*126T>C
ENST00000473085.1:n.265T>C
ENST00000479674.1:n.651T>C
ENST00000541084.5:c.132T>C	ENSP00000442051.2:p.Tyr44=
NM_000131.4:c.384T>C , LRG_554t1:c.384T>C	NP_000122.1:p.Tyr128=
NM_001267554.1:c.132T>C	NP_001254483.1:p.Tyr44=
NM_019616.3:c.318T>C , LRG_554t2:c.318T>C	NP_062562.1:p.Tyr106=
NR_051961.1:n.405T>C
XM_006719963.2:c.318T>C	XP_006720026.1:p.Tyr106=
XM_011537474.1:c.318T>C	XP_011535776.1:p.Tyr106=
XM_011537475.1:c.132T>C	XP_011535777.1:p.Tyr44=
XM_011537477.1:c.279T>C	XP_011535779.1:p.Tyr93=
XM_006719963.3:c.363T>C	XP_006720026.2:p.Tyr121=
XM_011537474.2:c.363T>C	XP_011535776.2:p.Tyr121=
XM_011537475.2:c.177T>C	XP_011535777.2:p.Tyr59=
NM_019616.4:c.318T>C MANE Select	NP_062562.1:p.Tyr106=
NR_051961.2:n.402T>C
NM_001267554.2:c.132T>C	NP_001254483.1:p.Tyr44=