Canonical Allele Identifier: CA2684616908
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 3076095
ClinVar RCV Id: RCV004018412
gnomAD v4: 7-117479897-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479897G>T , CM000669.2:g.117479897G>T GRCh38
NC_000007.13:g.117119951G>T , CM000669.1:g.117119951G>T GRCh37
NC_000007.12:g.116907187G>T NCBI36
NG_016465.4:g.19114G>T , LRG_663:g.19114G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-191+203G>T ENSP00000417012.1:n.-191+203G>T
ENST00000673785.1:c.-406+14066G>T ENSP00000501235.1:n.-406+14066G>T
ENST00000446805.1:c.-191+203G>T ENSP00000417012.1:n.-191+203G>T
ENST00000546407.1:n.166+4089G>T
XM_011515751.1:c.143+552G>T XP_011514053.1:n.143+552G>T
XM_011515752.1:c.143+552G>T XP_011514054.1:n.143+552G>T
XM_011515753.1:c.-191+203G>T XP_011514055.1:n.-191+203G>T
XM_011515754.1:c.-519+203G>T XP_011514056.1:n.-519+203G>T
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