Canonical Allele Identifier: CA1737343820
Gene: CFTR HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479332A= , CM000669.2:g.117479332A= GRCh38
NC_000007.13:g.117119386A= , CM000669.1:g.117119386A= GRCh37
NC_000007.12:g.116906622A= NCBI36
NG_016465.4:g.18549A= , LRG_663:g.18549A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-437A= ENSP00000417012.1:n.-437A=
ENST00000673785.1:c.-406+13501A= ENSP00000501235.1:n.-406+13501A=
ENST00000446805.1:c.-437A= ENSP00000417012.1:n.-437A=
ENST00000546407.1:n.166+3524A=
XM_011515751.1:c.130A= XP_011514053.1:p.Lys44=
XM_011515752.1:c.130A= XP_011514054.1:p.Lys44=
XM_011515753.1:c.-437A= XP_011514055.1:n.-437A=
XM_011515754.1:c.-765A= XP_011514056.1:n.-765A=
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