Canonical Allele Identifier: CA658822027
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 550903
ClinVar RCV Id: RCV000665789
dbSNP Id: rs1554372953
MyVariant Identifiers: chr7:g.117119475T>C (hg19) chr7:g.117479421T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479421T>C , CM000669.2:g.117479421T>C GRCh38
NC_000007.13:g.117119475T>C , CM000669.1:g.117119475T>C GRCh37
NC_000007.12:g.116906711T>C NCBI36
NG_016465.4:g.18638T>C , LRG_663:g.18638T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-423-41T>C ENSP00000417012.1:n.-423-41T>C
ENST00000673785.1:c.-406+13590T>C ENSP00000501235.1:n.-406+13590T>C
ENST00000446805.1:c.-423-41T>C ENSP00000417012.1:n.-423-41T>C
ENST00000546407.1:n.166+3613T>C
XM_011515751.1:c.143+76T>C XP_011514053.1:n.143+76T>C
XM_011515752.1:c.143+76T>C XP_011514054.1:n.143+76T>C
XM_011515753.1:c.-423-41T>C XP_011514055.1:n.-423-41T>C
XM_011515754.1:c.-751-41T>C XP_011514056.1:n.-751-41T>C
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