Canonical Allele Identifier: CA577219636
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117323508T>G , CM000669.2:g.117323508T>G GRCh38
NC_000007.13:g.116963562T>G , CM000669.1:g.116963562T>G GRCh37
NC_000007.12:g.116750798T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000673785.1:c.-491+22478T>G ENSP00000501235.1:n.-491+22478T>G