Canonical Allele Identifier: CA164948505
Gene: CFTR HGNC NCBI

Linked Data

dbSNP Id: rs908317408
gnomAD v2: 7-117119690-T-C
gnomAD v3: 7-117479636-T-C
gnomAD v4: 7-117479636-T-C
MyVariant Identifiers: chr7:g.117119690T>C (hg19) chr7:g.117479636T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479636T>C , CM000669.2:g.117479636T>C GRCh38
NC_000007.13:g.117119690T>C , CM000669.1:g.117119690T>C GRCh37
NC_000007.12:g.116906926T>C NCBI36
NG_016465.4:g.18853T>C , LRG_663:g.18853T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-249T>C ENSP00000417012.1:n.-249T>C
ENST00000673785.1:c.-406+13805T>C ENSP00000501235.1:n.-406+13805T>C
ENST00000446805.1:c.-249T>C ENSP00000417012.1:n.-249T>C
ENST00000546407.1:n.166+3828T>C
XM_011515751.1:c.143+291T>C XP_011514053.1:n.143+291T>C
XM_011515752.1:c.143+291T>C XP_011514054.1:n.143+291T>C
XM_011515753.1:c.-249T>C XP_011514055.1:n.-249T>C
XM_011515754.1:c.-577T>C XP_011514056.1:n.-577T>C
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