Canonical Allele Identifier: CA1737344040
Gene: CFTR HGNC NCBI

Linked Data

dbSNP Id: rs1584764182
gnomAD v4: 7-117479597-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479597T>C , CM000669.2:g.117479597T>C GRCh38
NC_000007.13:g.117119651T>C , CM000669.1:g.117119651T>C GRCh37
NC_000007.12:g.116906887T>C NCBI36
NG_016465.4:g.18814T>C , LRG_663:g.18814T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-288T>C ENSP00000417012.1:n.-288T>C
ENST00000673785.1:c.-406+13766T>C ENSP00000501235.1:n.-406+13766T>C
ENST00000446805.1:c.-288T>C ENSP00000417012.1:n.-288T>C
ENST00000546407.1:n.166+3789T>C
XM_011515751.1:c.143+252T>C XP_011514053.1:n.143+252T>C
XM_011515752.1:c.143+252T>C XP_011514054.1:n.143+252T>C
XM_011515753.1:c.-288T>C XP_011514055.1:n.-288T>C
XM_011515754.1:c.-616T>C XP_011514056.1:n.-616T>C
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