Canonical Allele Identifier: CA164948098
Gene: CFTR HGNC NCBI

Linked Data

dbSNP Id: rs543533537
gnomAD v3: 7-117478975-T-C
gnomAD v4: 7-117478975-T-C
MyVariant Identifiers: chr7:g.117119029T>C (hg19) chr7:g.117478975T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117478975T>C , CM000669.2:g.117478975T>C GRCh38
NC_000007.13:g.117119029T>C , CM000669.1:g.117119029T>C GRCh37
NC_000007.12:g.116906265T>C NCBI36
NG_016465.4:g.18192T>C , LRG_663:g.18192T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-525-269T>C ENSP00000417012.1:n.-525-269T>C
ENST00000673785.1:c.-406+13144T>C ENSP00000501235.1:n.-406+13144T>C
ENST00000546407.1:n.166+3167T>C
XM_011515751.1:c.42-269T>C XP_011514053.1:n.42-269T>C
XM_011515752.1:c.42-269T>C XP_011514054.1:n.42-269T>C
XM_011515754.1:c.-1122T>C XP_011514056.1:n.-1122T>C
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