Canonical Allele Identifier: CA832112230
Gene: CFTR HGNC NCBI

Linked Data

dbSNP Id: rs1439961248
gnomAD v3: 7-117478909-GCGCCTACGCCTGGGA-G
gnomAD v4: 7-117478909-GCGCCTACGCCTGGGA-G
MyVariant Identifiers: chr7:g.117118964_117118978del (hg19) chr7:g.117478910_117478924del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117478910_117478924del , CM000669.2:g.117478910_117478924del GRCh38
NC_000007.13:g.117118964_117118978del , CM000669.1:g.117118964_117118978del GRCh37
NC_000007.12:g.116906200_116906214del NCBI36
NG_016465.4:g.18127_18141del , LRG_663:g.18127_18141del

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-525-334_-525-320del ENSP00000417012.1:n.-525-334_-525-320del
ENST00000673785.1:c.-406+13079_-406+13093del ENSP00000501235.1:n.-406+13079_-406+13093del
ENST00000546407.1:n.166+3102_166+3116del
XM_011515751.1:c.42-334_42-320del XP_011514053.1:n.42-334_42-320del
XM_011515752.1:c.42-334_42-320del XP_011514054.1:n.42-334_42-320del
XM_011515754.1:c.-1187_-1173del XP_011514056.1:n.-1187_-1173del
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