Canonical Allele Identifier: CA164948080
Gene: CFTR HGNC NCBI

Linked Data

dbSNP Id: rs531846186
gnomAD v3: 7-117478945-G-A
gnomAD v4: 7-117478945-G-A
MyVariant Identifiers: chr7:g.117118999G>A (hg19) chr7:g.117478945G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117478945G>A , CM000669.2:g.117478945G>A GRCh38
NC_000007.13:g.117118999G>A , CM000669.1:g.117118999G>A GRCh37
NC_000007.12:g.116906235G>A NCBI36
NG_016465.4:g.18162G>A , LRG_663:g.18162G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000446805.2:c.-525-299G>A ENSP00000417012.1:n.-525-299G>A
ENST00000673785.1:c.-406+13114G>A ENSP00000501235.1:n.-406+13114G>A
ENST00000546407.1:n.166+3137G>A
XM_011515751.1:c.42-299G>A XP_011514053.1:n.42-299G>A
XM_011515752.1:c.42-299G>A XP_011514054.1:n.42-299G>A
XM_011515754.1:c.-1152G>A XP_011514056.1:n.-1152G>A
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