Canonical Allele Identifier: CA164948498
Gene: CFTR HGNC NCBI

Linked Data

dbSNP Id: rs969444143
gnomAD v2: 7-117119666-C-T
gnomAD v3: 7-117479612-C-T
gnomAD v4: 7-117479612-C-T
MyVariant Identifiers: chr7:g.117119666C>T (hg19) chr7:g.117479612C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479612C>T , CM000669.2:g.117479612C>T GRCh38
NC_000007.13:g.117119666C>T , CM000669.1:g.117119666C>T GRCh37
NC_000007.12:g.116906902C>T NCBI36
NG_016465.4:g.18829C>T , LRG_663:g.18829C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-273C>T ENSP00000417012.1:n.-273C>T
ENST00000673785.1:c.-406+13781C>T ENSP00000501235.1:n.-406+13781C>T
ENST00000446805.1:c.-273C>T ENSP00000417012.1:n.-273C>T
ENST00000546407.1:n.166+3804C>T
XM_011515751.1:c.143+267C>T XP_011514053.1:n.143+267C>T
XM_011515752.1:c.143+267C>T XP_011514054.1:n.143+267C>T
XM_011515753.1:c.-273C>T XP_011514055.1:n.-273C>T
XM_011515754.1:c.-601C>T XP_011514056.1:n.-601C>T
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