Canonical Allele Identifier: CA577211694
Gene: CFTR HGNC NCBI

Linked Data

dbSNP Id: rs1490400109
gnomAD v2: 7-117119637-CG-C
gnomAD v3: 7-117479583-CG-C
gnomAD v4: 7-117479583-CG-C
MyVariant Identifiers: chr7:g.117119638del (hg19) chr7:g.117479584del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479587del , CM000669.2:g.117479587del GRCh38
NC_000007.13:g.117119641del , CM000669.1:g.117119641del GRCh37
NC_000007.12:g.116906877del NCBI36
NG_016465.4:g.18804del , LRG_663:g.18804del

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-298del ENSP00000417012.1:n.-298del
ENST00000673785.1:c.-406+13756del ENSP00000501235.1:n.-406+13756del
ENST00000446805.1:c.-298del ENSP00000417012.1:n.-298del
ENST00000546407.1:n.166+3779del
XM_011515751.1:c.143+242del XP_011514053.1:n.143+242del
XM_011515752.1:c.143+242del XP_011514054.1:n.143+242del
XM_011515753.1:c.-298del XP_011514055.1:n.-298del
XM_011515754.1:c.-626del XP_011514056.1:n.-626del
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