Canonical Allele Identifier: CA164948370
Gene: CFTR HGNC NCBI

Linked Data

dbSNP Id: rs997719134
gnomAD v2: 7-117119434-T-A
gnomAD v3: 7-117479380-T-A
gnomAD v4: 7-117479380-T-A
MyVariant Identifiers: chr7:g.117119434T>A (hg19) chr7:g.117479380T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479380T>A , CM000669.2:g.117479380T>A GRCh38
NC_000007.13:g.117119434T>A , CM000669.1:g.117119434T>A GRCh37
NC_000007.12:g.116906670T>A NCBI36
NG_016465.4:g.18597T>A , LRG_663:g.18597T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-424+35T>A ENSP00000417012.1:n.-424+35T>A
ENST00000673785.1:c.-406+13549T>A ENSP00000501235.1:n.-406+13549T>A
ENST00000446805.1:c.-424+35T>A ENSP00000417012.1:n.-424+35T>A
ENST00000546407.1:n.166+3572T>A
XM_011515751.1:c.143+35T>A XP_011514053.1:n.143+35T>A
XM_011515752.1:c.143+35T>A XP_011514054.1:n.143+35T>A
XM_011515753.1:c.-424+35T>A XP_011514055.1:n.-424+35T>A
XM_011515754.1:c.-752+35T>A XP_011514056.1:n.-752+35T>A
Search 100 bp 5'
Search 100 bp 3'