Canonical Allele Identifier: CA2684616923
Gene: CFTR HGNC NCBI

Linked Data

gnomAD v4: 7-117479910-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479910G>C , CM000669.2:g.117479910G>C GRCh38
NC_000007.13:g.117119964G>C , CM000669.1:g.117119964G>C GRCh37
NC_000007.12:g.116907200G>C NCBI36
NG_016465.4:g.19127G>C , LRG_663:g.19127G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000446805.2:c.-191+216G>C ENSP00000417012.1:n.-191+216G>C
ENST00000673785.1:c.-406+14079G>C ENSP00000501235.1:n.-406+14079G>C
ENST00000446805.1:c.-191+216G>C ENSP00000417012.1:n.-191+216G>C
ENST00000546407.1:n.166+4102G>C
XM_011515751.1:c.143+565G>C XP_011514053.1:n.143+565G>C
XM_011515752.1:c.143+565G>C XP_011514054.1:n.143+565G>C
XM_011515753.1:c.-191+216G>C XP_011514055.1:n.-191+216G>C
XM_011515754.1:c.-519+216G>C XP_011514056.1:n.-519+216G>C
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