Canonical Allele Identifier: CA832112363
Gene: CFTR HGNC NCBI

Linked Data

dbSNP Id: rs1306707777
gnomAD v4: 7-117479184-G-A
MyVariant Identifiers: chr7:g.117119238G>A (hg19) chr7:g.117479184G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479184G>A , CM000669.2:g.117479184G>A GRCh38
NC_000007.13:g.117119238G>A , CM000669.1:g.117119238G>A GRCh37
NC_000007.12:g.116906474G>A NCBI36
NG_016465.4:g.18401G>A , LRG_663:g.18401G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-525-60G>A ENSP00000417012.1:n.-525-60G>A
ENST00000673785.1:c.-406+13353G>A ENSP00000501235.1:n.-406+13353G>A
ENST00000546407.1:n.166+3376G>A
XM_011515751.1:c.42-60G>A XP_011514053.1:n.42-60G>A
XM_011515752.1:c.42-60G>A XP_011514054.1:n.42-60G>A
XM_011515754.1:c.-913G>A XP_011514056.1:n.-913G>A
Search 100 bp 5'
Search 100 bp 3'