Canonical Allele Identifier: CA1106300269
Gene: CFTR HGNC NCBI

Linked Data

dbSNP Id: rs1584764377
gnomAD v3: 7-117479903-T-G
gnomAD v4: 7-117479903-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479903T>G , CM000669.2:g.117479903T>G GRCh38
NC_000007.13:g.117119957T>G , CM000669.1:g.117119957T>G GRCh37
NC_000007.12:g.116907193T>G NCBI36
NG_016465.4:g.19120T>G , LRG_663:g.19120T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000446805.2:c.-191+209T>G ENSP00000417012.1:n.-191+209T>G
ENST00000673785.1:c.-406+14072T>G ENSP00000501235.1:n.-406+14072T>G
ENST00000446805.1:c.-191+209T>G ENSP00000417012.1:n.-191+209T>G
ENST00000546407.1:n.166+4095T>G
XM_011515751.1:c.143+558T>G XP_011514053.1:n.143+558T>G
XM_011515752.1:c.143+558T>G XP_011514054.1:n.143+558T>G
XM_011515753.1:c.-191+209T>G XP_011514055.1:n.-191+209T>G
XM_011515754.1:c.-519+209T>G XP_011514056.1:n.-519+209T>G
Search 100 bp 5'
Search 100 bp 3'