Canonical Allele Identifier: CA1106299809
Gene: CFTR HGNC NCBI

Linked Data

dbSNP Id: rs1797934468
gnomAD v3: 7-117478948-T-C
gnomAD v4: 7-117478948-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117478948T>C , CM000669.2:g.117478948T>C GRCh38
NC_000007.13:g.117119002T>C , CM000669.1:g.117119002T>C GRCh37
NC_000007.12:g.116906238T>C NCBI36
NG_016465.4:g.18165T>C , LRG_663:g.18165T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000446805.2:c.-525-296T>C ENSP00000417012.1:n.-525-296T>C
ENST00000673785.1:c.-406+13117T>C ENSP00000501235.1:n.-406+13117T>C
ENST00000546407.1:n.166+3140T>C
XM_011515751.1:c.42-296T>C XP_011514053.1:n.42-296T>C
XM_011515752.1:c.42-296T>C XP_011514054.1:n.42-296T>C
XM_011515754.1:c.-1149T>C XP_011514056.1:n.-1149T>C
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