Canonical Allele Identifier: CA1132905517

Gene: CFP

Linked Data

• dbSNP Id: rs2057975547
• gnomAD v3: X-47627796-C-CTTCA
• gnomAD v4: X-47627796-C-CTTCA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47627797_47627800dup , CM000685.2:g.47627797_47627800dup	GRCh38
NC_000023.10:g.47487196_47487199dup , CM000685.1:g.47487196_47487199dup	GRCh37
NC_000023.9:g.47372140_47372143dup	NCBI36
NG_009893.1:g.7506_7509dup , LRG_129:g.7506_7509dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396992.8:c.404-159_404-156dup MANE Select	ENSP00000380189.3:n.404-159_404-156dup
ENST00000640573.1:n.642-159_642-156dup
ENST00000247153.7:c.404-159_404-156dup	ENSP00000247153.3:n.404-159_404-156dup
ENST00000377005.6:c.404-159_404-156dup	ENSP00000366204.2:n.404-159_404-156dup
ENST00000396992.7:c.404-159_404-156dup	ENSP00000380189.3:n.404-159_404-156dup
ENST00000469388.1:c.-2-159_-2-156dup	ENSP00000418258.1:n.-2-159_-2-156dup
ENST00000485991.5:n.1701-159_1701-156dup
NM_001145252.1:c.404-159_404-156dup	NP_001138724.1:n.404-159_404-156dup
NM_002621.2:c.404-159_404-156dup , LRG_129t1:c.404-159_404-156dup	NP_002612.1:n.404-159_404-156dup
XM_017029575.1:c.-2-159_-2-156dup	XP_016885064.1:n.-2-159_-2-156dup
NM_001145252.3:c.404-159_404-156dup MANE Select	NP_001138724.1:n.404-159_404-156dup