Canonical Allele Identifier: CA1737343624
Gene: CFTR HGNC NCBI

Linked Data

dbSNP Id: rs1797936596
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479024G>T , CM000669.2:g.117479024G>T GRCh38
NC_000007.13:g.117119078G>T , CM000669.1:g.117119078G>T GRCh37
NC_000007.12:g.116906314G>T NCBI36
NG_016465.4:g.18241G>T , LRG_663:g.18241G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-525-220G>T ENSP00000417012.1:n.-525-220G>T
ENST00000673785.1:c.-406+13193G>T ENSP00000501235.1:n.-406+13193G>T
ENST00000546407.1:n.166+3216G>T
XM_011515751.1:c.42-220G>T XP_011514053.1:n.42-220G>T
XM_011515752.1:c.42-220G>T XP_011514054.1:n.42-220G>T
XM_011515754.1:c.-1073G>T XP_011514056.1:n.-1073G>T
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