Canonical Allele Identifier: CA10647119

Gene: IFT140

Linked Data

• ClinVar Variation Id: 318226
• ClinVar RCV Id: RCV000259656
• dbSNP Id: rs528212874
• gnomAD v2: 16-1662075-G-A
• gnomAD v3: 16-1612074-G-A
• gnomAD v4: 16-1612074-G-A
• MyVariant Identifiers: chr16:g.1662075G>A (hg19) ; chr16:g.1612074G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1612074G>A , CM000678.2:g.1612074G>A	GRCh38
NC_000016.9:g.1662075G>A , CM000678.1:g.1662075G>A	GRCh37
NC_000016.8:g.1602076G>A	NCBI36
NG_032783.1:g.5035C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000426508.6:c.-328C>T	ENSP00000406012.2:n.-328C>T
NM_014714.3:c.-328C>T	NP_055529.2:n.-328C>T