Canonical Allele Identifier: CA164971064
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs10281281

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117564408A>G , CM000669.2:g.117564408A>G GRCh38
NC_000007.13:g.117204462A>G , CM000669.1:g.117204462A>G GRCh37
NC_000007.12:g.116991698A>G NCBI36
NG_016465.4:g.103625A>G , LRG_663:g.103625A>G

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.1584+4753A>G , LRG_663t1:c.1584+4753A>G NP_000483.3:p.=
XM_011515751.1:c.1674+4753A>G XP_011514053.1:p.=
XM_011515752.1:c.1674+4753A>G XP_011514054.1:p.=
XM_011515753.1:c.1341+4753A>G XP_011514055.1:p.=
XM_011515754.1:c.1341+4753A>G XP_011514056.1:p.=
NR_149084.1:n.161+108T>C
ENST00000003084.10:c.1584+4753A>G ENSP00000003084.6:p.=
ENST00000426809.5:n.1494+4753A>G ENSP00000389119.1:p.=
ENST00000472848.1:n.19-261A>G