ClinGen Allele Registry
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Canonical Allele Identifier:
CA577211644
Gene: CFTR
HGNC
NCBI
Linked Data
dbSNP Id:
rs1276838292
gnomAD v2:
7-117119372-T-A
gnomAD v3:
7-117479318-T-A
gnomAD v4:
7-117479318-T-A
MyVariant Identifiers:
chr7:g.117119372T>A (hg19)
chr7:g.117479318T>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.117479318T>A , CM000669.2:g.117479318T>A
GRCh38
NC_000007.13:g.117119372T>A , CM000669.1:g.117119372T>A
GRCh37
NC_000007.12:g.116906608T>A
NCBI36
NG_016465.4:g.18535T>A , LRG_663:g.18535T>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000446805.2:c.-451T>A
ENSP00000417012.1:n.-451T>A
ENST00000673785.1:c.-406+13487T>A
ENSP00000501235.1:n.-406+13487T>A
ENST00000446805.1:c.-451T>A
ENSP00000417012.1:n.-451T>A
ENST00000546407.1:n.166+3510T>A
XM_011515751.1:c.116T>A
XP_011514053.1:p.Phe39Tyr
XM_011515752.1:c.116T>A
XP_011514054.1:p.Phe39Tyr
XM_011515753.1:c.-451T>A
XP_011514055.1:n.-451T>A
XM_011515754.1:c.-779T>A
XP_011514056.1:n.-779T>A
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