Canonical Allele Identifier: CA329071332

Gene: CFP

Linked Data

• dbSNP Id: rs1010187996
• gnomAD v4: X-47627763-A-G
• MyVariant Identifiers: chrX:g.47487162A>G (hg19) ; chrX:g.47627763A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47627763A>G , CM000685.2:g.47627763A>G	GRCh38
NC_000023.10:g.47487162A>G , CM000685.1:g.47487162A>G	GRCh37
NC_000023.9:g.47372106A>G	NCBI36
NG_009893.1:g.7543T>C , LRG_129:g.7543T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396992.8:c.404-122T>C MANE Select	ENSP00000380189.3:n.404-122T>C
ENST00000640573.1:n.642-122T>C
ENST00000247153.7:c.404-122T>C	ENSP00000247153.3:n.404-122T>C
ENST00000377005.6:c.404-122T>C	ENSP00000366204.2:n.404-122T>C
ENST00000396992.7:c.404-122T>C	ENSP00000380189.3:n.404-122T>C
ENST00000469388.1:c.-2-122T>C	ENSP00000418258.1:n.-2-122T>C
ENST00000485991.5:n.1701-122T>C
NM_001145252.1:c.404-122T>C	NP_001138724.1:n.404-122T>C
NM_002621.2:c.404-122T>C , LRG_129t1:c.404-122T>C	NP_002612.1:n.404-122T>C
XM_017029575.1:c.-2-122T>C	XP_016885064.1:n.-2-122T>C
NM_001145252.3:c.404-122T>C MANE Select	NP_001138724.1:n.404-122T>C