Canonical Allele Identifier: CA1737344068
Gene: CFTR HGNC NCBI

Linked Data

dbSNP Id: rs1797961502
gnomAD v4: 7-117479617-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479617G>A , CM000669.2:g.117479617G>A GRCh38
NC_000007.13:g.117119671G>A , CM000669.1:g.117119671G>A GRCh37
NC_000007.12:g.116906907G>A NCBI36
NG_016465.4:g.18834G>A , LRG_663:g.18834G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-268G>A ENSP00000417012.1:n.-268G>A
ENST00000673785.1:c.-406+13786G>A ENSP00000501235.1:n.-406+13786G>A
ENST00000446805.1:c.-268G>A ENSP00000417012.1:n.-268G>A
ENST00000546407.1:n.166+3809G>A
XM_011515751.1:c.143+272G>A XP_011514053.1:n.143+272G>A
XM_011515752.1:c.143+272G>A XP_011514054.1:n.143+272G>A
XM_011515753.1:c.-268G>A XP_011514055.1:n.-268G>A
XM_011515754.1:c.-596G>A XP_011514056.1:n.-596G>A
Search 100 bp 5'
Search 100 bp 3'