Canonical Allele Identifier: CA1737343873
Gene: CFTR HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479398T= , CM000669.2:g.117479398T= GRCh38
NC_000007.13:g.117119452T= , CM000669.1:g.117119452T= GRCh37
NC_000007.12:g.116906688T= NCBI36
NG_016465.4:g.18615T= , LRG_663:g.18615T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-424+53T= ENSP00000417012.1:n.-424+53T=
ENST00000673785.1:c.-406+13567T= ENSP00000501235.1:n.-406+13567T=
ENST00000446805.1:c.-424+53T= ENSP00000417012.1:n.-424+53T=
ENST00000546407.1:n.166+3590T=
XM_011515751.1:c.143+53T= XP_011514053.1:n.143+53T=
XM_011515752.1:c.143+53T= XP_011514054.1:n.143+53T=
XM_011515753.1:c.-424+53T= XP_011514055.1:n.-424+53T=
XM_011515754.1:c.-752+53T= XP_011514056.1:n.-752+53T=
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