Canonical Allele Identifier: CA832112240
Gene: CFTR HGNC NCBI

Linked Data

dbSNP Id: rs1408836999
MyVariant Identifiers: chr7:g.117118970C>A (hg19) chr7:g.117478916C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117478916C>A , CM000669.2:g.117478916C>A GRCh38
NC_000007.13:g.117118970C>A , CM000669.1:g.117118970C>A GRCh37
NC_000007.12:g.116906206C>A NCBI36
NG_016465.4:g.18133C>A , LRG_663:g.18133C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-525-328C>A ENSP00000417012.1:n.-525-328C>A
ENST00000673785.1:c.-406+13085C>A ENSP00000501235.1:n.-406+13085C>A
ENST00000546407.1:n.166+3108C>A
XM_011515751.1:c.42-328C>A XP_011514053.1:n.42-328C>A
XM_011515752.1:c.42-328C>A XP_011514054.1:n.42-328C>A
XM_011515754.1:c.-1181C>A XP_011514056.1:n.-1181C>A
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