Canonical Allele Identifier: CA2560129196
Gene: CFTR HGNC NCBI

Linked Data

gnomAD v4: 7-117479571-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479571T>C , CM000669.2:g.117479571T>C GRCh38
NC_000007.13:g.117119625T>C , CM000669.1:g.117119625T>C GRCh37
NC_000007.12:g.116906861T>C NCBI36
NG_016465.4:g.18788T>C , LRG_663:g.18788T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-314T>C ENSP00000417012.1:n.-314T>C
ENST00000673785.1:c.-406+13740T>C ENSP00000501235.1:n.-406+13740T>C
ENST00000446805.1:c.-314T>C ENSP00000417012.1:n.-314T>C
ENST00000546407.1:n.166+3763T>C
XM_011515751.1:c.143+226T>C XP_011514053.1:n.143+226T>C
XM_011515752.1:c.143+226T>C XP_011514054.1:n.143+226T>C
XM_011515753.1:c.-314T>C XP_011514055.1:n.-314T>C
XM_011515754.1:c.-642T>C XP_011514056.1:n.-642T>C
Search 100 bp 5'
Search 100 bp 3'