Canonical Allele Identifier: CA641900998

Gene: CFP

Linked Data

• dbSNP Id: rs1368586043
• gnomAD v2: X-47487070-G-A
• MyVariant Identifiers: chrX:g.47487070G>A (hg19) ; chrX:g.47627671G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47627671G>A , CM000685.2:g.47627671G>A	GRCh38
NC_000023.10:g.47487070G>A , CM000685.1:g.47487070G>A	GRCh37
NC_000023.9:g.47372014G>A	NCBI36
NG_009893.1:g.7635C>T , LRG_129:g.7635C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396992.8:c.404-30C>T MANE Select	ENSP00000380189.3:n.404-30C>T
ENST00000640573.1:n.642-30C>T
ENST00000247153.7:c.404-30C>T	ENSP00000247153.3:n.404-30C>T
ENST00000377005.6:c.404-30C>T	ENSP00000366204.2:n.404-30C>T
ENST00000396992.7:c.404-30C>T	ENSP00000380189.3:n.404-30C>T
ENST00000469388.1:c.-2-30C>T	ENSP00000418258.1:n.-2-30C>T
ENST00000485991.5:n.1701-30C>T
NM_001145252.1:c.404-30C>T	NP_001138724.1:n.404-30C>T
NM_002621.2:c.404-30C>T , LRG_129t1:c.404-30C>T	NP_002612.1:n.404-30C>T
XM_017029575.1:c.-2-30C>T	XP_016885064.1:n.-2-30C>T
NM_001145252.3:c.404-30C>T MANE Select	NP_001138724.1:n.404-30C>T