Canonical Allele Identifier: CA832112479
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 3076102
ClinVar RCV Id: RCV004018419
dbSNP Id: rs1265630286
gnomAD v3: 7-117479408-T-C
gnomAD v4: 7-117479408-T-C
MyVariant Identifiers: chr7:g.117119462T>C (hg19) chr7:g.117479408T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479408T>C , CM000669.2:g.117479408T>C GRCh38
NC_000007.13:g.117119462T>C , CM000669.1:g.117119462T>C GRCh37
NC_000007.12:g.116906698T>C NCBI36
NG_016465.4:g.18625T>C , LRG_663:g.18625T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-423-54T>C ENSP00000417012.1:n.-423-54T>C
ENST00000673785.1:c.-406+13577T>C ENSP00000501235.1:n.-406+13577T>C
ENST00000446805.1:c.-423-54T>C ENSP00000417012.1:n.-423-54T>C
ENST00000546407.1:n.166+3600T>C
XM_011515751.1:c.143+63T>C XP_011514053.1:n.143+63T>C
XM_011515752.1:c.143+63T>C XP_011514054.1:n.143+63T>C
XM_011515753.1:c.-423-54T>C XP_011514055.1:n.-423-54T>C
XM_011515754.1:c.-751-54T>C XP_011514056.1:n.-751-54T>C
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