Canonical Allele Identifier: CA326357
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 53158
ClinVar RCV Id: RCV000046190
dbSNP Id: rs397508136

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117480082_117480104del , CM000669.2:g.117480082_117480104del GRCh38
NC_000007.13:g.117120136_117120158del , CM000669.1:g.117120136_117120158del GRCh37
NC_000007.12:g.116907372_116907394del NCBI36
NG_016465.4:g.19299_19321del , LRG_663:g.19299_19321del

Transcript Alleles

HGVS Amino-acid change
ENST00000446805.1:c.-191+388_-191+410del ENSP00000417012.1:p.=
XM_011515751.1:c.143+737_143+759del XP_011514053.1:p.=
XM_011515752.1:c.143+737_143+759del XP_011514054.1:p.=
XM_011515753.1:c.-191+388_-191+410del XP_011514055.1:p.=
XM_011515754.1:c.-518-66_-518-44del XP_011514056.1:p.=