Canonical Allele Identifier: CA1737343685
Gene: CFTR HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479154A= , CM000669.2:g.117479154A= GRCh38
NC_000007.13:g.117119208A= , CM000669.1:g.117119208A= GRCh37
NC_000007.12:g.116906444A= NCBI36
NG_016465.4:g.18371A= , LRG_663:g.18371A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-525-90A= ENSP00000417012.1:n.-525-90A=
ENST00000673785.1:c.-406+13323A= ENSP00000501235.1:n.-406+13323A=
ENST00000546407.1:n.166+3346A=
XM_011515751.1:c.42-90A= XP_011514053.1:n.42-90A=
XM_011515752.1:c.42-90A= XP_011514054.1:n.42-90A=
XM_011515754.1:c.-943A= XP_011514056.1:n.-943A=
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