Canonical Allele Identifier: CA1737344368
Gene: CFTR HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479913G= , CM000669.2:g.117479913G= GRCh38
NC_000007.13:g.117119967G= , CM000669.1:g.117119967G= GRCh37
NC_000007.12:g.116907203G= NCBI36
NG_016465.4:g.19130G= , LRG_663:g.19130G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-191+219G= ENSP00000417012.1:n.-191+219G=
ENST00000673785.1:c.-406+14082G= ENSP00000501235.1:n.-406+14082G=
ENST00000446805.1:c.-191+219G= ENSP00000417012.1:n.-191+219G=
ENST00000546407.1:n.166+4105G=
XM_011515751.1:c.143+568G= XP_011514053.1:n.143+568G=
XM_011515752.1:c.143+568G= XP_011514054.1:n.143+568G=
XM_011515753.1:c.-191+219G= XP_011514055.1:n.-191+219G=
XM_011515754.1:c.-519+219G= XP_011514056.1:n.-519+219G=
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