Canonical Allele Identifier: CA164948102
Gene: CFTR HGNC NCBI

Linked Data

dbSNP Id: rs924166387
MyVariant Identifiers: chr7:g.117119031A>G (hg19) chr7:g.117478977A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117478977A>G , CM000669.2:g.117478977A>G GRCh38
NC_000007.13:g.117119031A>G , CM000669.1:g.117119031A>G GRCh37
NC_000007.12:g.116906267A>G NCBI36
NG_016465.4:g.18194A>G , LRG_663:g.18194A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-525-267A>G ENSP00000417012.1:n.-525-267A>G
ENST00000673785.1:c.-406+13146A>G ENSP00000501235.1:n.-406+13146A>G
ENST00000546407.1:n.166+3169A>G
XM_011515751.1:c.42-267A>G XP_011514053.1:n.42-267A>G
XM_011515752.1:c.42-267A>G XP_011514054.1:n.42-267A>G
XM_011515754.1:c.-1120A>G XP_011514056.1:n.-1120A>G
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