Canonical Allele Identifier: CA2693589518

Gene: CFP

Linked Data

• dbSNP Id: rs2147937228
• gnomAD v4: X-47627759-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47627759G>T , CM000685.2:g.47627759G>T	GRCh38
NC_000023.10:g.47487158G>T , CM000685.1:g.47487158G>T	GRCh37
NC_000023.9:g.47372102G>T	NCBI36
NG_009893.1:g.7547C>A , LRG_129:g.7547C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396992.8:c.404-118C>A MANE Select	ENSP00000380189.3:n.404-118C>A
ENST00000640573.1:n.642-118C>A
ENST00000247153.7:c.404-118C>A	ENSP00000247153.3:n.404-118C>A
ENST00000377005.6:c.404-118C>A	ENSP00000366204.2:n.404-118C>A
ENST00000396992.7:c.404-118C>A	ENSP00000380189.3:n.404-118C>A
ENST00000469388.1:c.-2-118C>A	ENSP00000418258.1:n.-2-118C>A
ENST00000485991.5:n.1701-118C>A
NM_001145252.1:c.404-118C>A	NP_001138724.1:n.404-118C>A
NM_002621.2:c.404-118C>A , LRG_129t1:c.404-118C>A	NP_002612.1:n.404-118C>A
XM_017029575.1:c.-2-118C>A	XP_016885064.1:n.-2-118C>A
NM_001145252.3:c.404-118C>A MANE Select	NP_001138724.1:n.404-118C>A