Canonical Allele Identifier: CA164948468
Gene: CFTR HGNC NCBI

Linked Data

dbSNP Id: rs970054586
gnomAD v4: 7-117479558-G-A
MyVariant Identifiers: chr7:g.117119612G>A (hg19) chr7:g.117479558G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479558G>A , CM000669.2:g.117479558G>A GRCh38
NC_000007.13:g.117119612G>A , CM000669.1:g.117119612G>A GRCh37
NC_000007.12:g.116906848G>A NCBI36
NG_016465.4:g.18775G>A , LRG_663:g.18775G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-327G>A ENSP00000417012.1:n.-327G>A
ENST00000673785.1:c.-406+13727G>A ENSP00000501235.1:n.-406+13727G>A
ENST00000446805.1:c.-327G>A ENSP00000417012.1:n.-327G>A
ENST00000546407.1:n.166+3750G>A
XM_011515751.1:c.143+213G>A XP_011514053.1:n.143+213G>A
XM_011515752.1:c.143+213G>A XP_011514054.1:n.143+213G>A
XM_011515753.1:c.-327G>A XP_011514055.1:n.-327G>A
XM_011515754.1:c.-655G>A XP_011514056.1:n.-655G>A
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