Canonical Allele Identifier: CA164948703
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 597979
ClinVar RCV Id: RCV000734253 RCV002535373
dbSNP Id: rs551681003
gnomAD v2: 7-117119997-G-C
gnomAD v3: 7-117479943-G-C
gnomAD v4: 7-117479943-G-C
MyVariant Identifiers: chr7:g.117119997G>C (hg19) chr7:g.117479943G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479943G>C , CM000669.2:g.117479943G>C GRCh38
NC_000007.13:g.117119997G>C , CM000669.1:g.117119997G>C GRCh37
NC_000007.12:g.116907233G>C NCBI36
NG_016465.4:g.19160G>C , LRG_663:g.19160G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-191+249G>C ENSP00000417012.1:n.-191+249G>C
ENST00000673785.1:c.-406+14112G>C ENSP00000501235.1:n.-406+14112G>C
ENST00000446805.1:c.-191+249G>C ENSP00000417012.1:n.-191+249G>C
ENST00000546407.1:n.166+4135G>C
XM_011515751.1:c.143+598G>C XP_011514053.1:n.143+598G>C
XM_011515752.1:c.143+598G>C XP_011514054.1:n.143+598G>C
XM_011515753.1:c.-191+249G>C XP_011514055.1:n.-191+249G>C
XM_011515754.1:c.-518-205G>C XP_011514056.1:n.-518-205G>C
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