Canonical Allele Identifier: CA1737343600
Gene: CFTR HGNC NCBI

Linked Data

dbSNP Id: rs1797935739

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117478987del , CM000669.2:g.117478987del GRCh38
NC_000007.13:g.117119041del , CM000669.1:g.117119041del GRCh37
NC_000007.12:g.116906277del NCBI36
NG_016465.4:g.18204del , LRG_663:g.18204del

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-525-257del ENSP00000417012.1:n.-525-257del
ENST00000673785.1:c.-406+13156del ENSP00000501235.1:n.-406+13156del
ENST00000546407.1:n.166+3179del
XM_011515751.1:c.42-257del XP_011514053.1:n.42-257del
XM_011515752.1:c.42-257del XP_011514054.1:n.42-257del
XM_011515754.1:c.-1110del XP_011514056.1:n.-1110del