Canonical Allele Identifier: CA832112299
Gene: CFTR HGNC NCBI

Linked Data

dbSNP Id: rs1478545587
MyVariant Identifiers: chr7:g.117119145T>C (hg19) chr7:g.117479091T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479091T>C , CM000669.2:g.117479091T>C GRCh38
NC_000007.13:g.117119145T>C , CM000669.1:g.117119145T>C GRCh37
NC_000007.12:g.116906381T>C NCBI36
NG_016465.4:g.18308T>C , LRG_663:g.18308T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-525-153T>C ENSP00000417012.1:n.-525-153T>C
ENST00000673785.1:c.-406+13260T>C ENSP00000501235.1:n.-406+13260T>C
ENST00000546407.1:n.166+3283T>C
XM_011515751.1:c.42-153T>C XP_011514053.1:n.42-153T>C
XM_011515752.1:c.42-153T>C XP_011514054.1:n.42-153T>C
XM_011515754.1:c.-1006T>C XP_011514056.1:n.-1006T>C
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