Canonical Allele Identifier: CA832112101
Gene: CFTR HGNC NCBI

Linked Data

dbSNP Id: rs1280405513
MyVariant Identifiers: chr7:g.117118756G>T (hg19) chr7:g.117478702G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117478702G>T , CM000669.2:g.117478702G>T GRCh38
NC_000007.13:g.117118756G>T , CM000669.1:g.117118756G>T GRCh37
NC_000007.12:g.116905992G>T NCBI36
NG_016465.4:g.17919G>T , LRG_663:g.17919G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-526+280G>T ENSP00000417012.1:n.-526+280G>T
ENST00000673785.1:c.-406+12871G>T ENSP00000501235.1:n.-406+12871G>T
ENST00000546407.1:n.166+2894G>T
XM_011515751.1:c.41+280G>T XP_011514053.1:n.41+280G>T
XM_011515752.1:c.41+280G>T XP_011514054.1:n.41+280G>T
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