Canonical Allele Identifier: CA832112147
Gene: CFTR HGNC NCBI

Linked Data

dbSNP Id: rs1328174038
gnomAD v3: 7-117478825-C-T
gnomAD v4: 7-117478825-C-T
MyVariant Identifiers: chr7:g.117118879C>T (hg19) chr7:g.117478825C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117478825C>T , CM000669.2:g.117478825C>T GRCh38
NC_000007.13:g.117118879C>T , CM000669.1:g.117118879C>T GRCh37
NC_000007.12:g.116906115C>T NCBI36
NG_016465.4:g.18042C>T , LRG_663:g.18042C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-526+403C>T ENSP00000417012.1:n.-526+403C>T
ENST00000673785.1:c.-406+12994C>T ENSP00000501235.1:n.-406+12994C>T
ENST00000546407.1:n.166+3017C>T
XM_011515751.1:c.41+403C>T XP_011514053.1:n.41+403C>T
XM_011515752.1:c.41+403C>T XP_011514054.1:n.41+403C>T
XM_011515754.1:c.-1272C>T XP_011514056.1:n.-1272C>T
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