Canonical Allele Identifier: CA164948327
Gene: CFTR HGNC NCBI

Linked Data

dbSNP Id: rs940587474
gnomAD v3: 7-117479331-A-C
gnomAD v4: 7-117479331-A-C
MyVariant Identifiers: chr7:g.117119385A>C (hg19) chr7:g.117479331A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479331A>C , CM000669.2:g.117479331A>C GRCh38
NC_000007.13:g.117119385A>C , CM000669.1:g.117119385A>C GRCh37
NC_000007.12:g.116906621A>C NCBI36
NG_016465.4:g.18548A>C , LRG_663:g.18548A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-438A>C ENSP00000417012.1:n.-438A>C
ENST00000673785.1:c.-406+13500A>C ENSP00000501235.1:n.-406+13500A>C
ENST00000446805.1:c.-438A>C ENSP00000417012.1:n.-438A>C
ENST00000546407.1:n.166+3523A>C
XM_011515751.1:c.129A>C XP_011514053.1:p.Ala43=
XM_011515752.1:c.129A>C XP_011514054.1:p.Ala43=
XM_011515753.1:c.-438A>C XP_011514055.1:n.-438A>C
XM_011515754.1:c.-766A>C XP_011514056.1:n.-766A>C
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