Canonical Allele Identifier: CA394217537

Gene: IFT140

Linked Data

• dbSNP Id: rs431905521
• gnomAD v2: 16-1637962-C-G
• gnomAD v4: 16-1587961-C-G
• MyVariant Identifiers: chr16:g.1637962C>G (hg19) ; chr16:g.1587961C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1587961C>G , CM000678.2:g.1587961C>G	GRCh38
NC_000016.9:g.1637962C>G , CM000678.1:g.1637962C>G	GRCh37
NC_000016.8:g.1577963C>G	NCBI36
NG_032783.1:g.29148G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000426508.7:c.874G>C MANE Select	ENSP00000406012.2:p.Val292Leu
ENST00000397417.6:c.329-3541G>C	ENSP00000380562.2:n.329-3541G>C
ENST00000426508.6:c.874G>C	ENSP00000406012.2:p.Val292Leu
ENST00000439987.6:n.935G>C
NM_014714.3:c.874G>C	NP_055529.2:p.Val292Leu
XM_005255725.3:c.874G>C	XP_005255782.1:p.Val292Leu
XM_005255726.2:c.874G>C	XP_005255783.1:p.Val292Leu
XM_006720989.2:c.874G>C	XP_006721052.1:p.Val292Leu
XM_006720990.2:c.874G>C	XP_006721053.1:p.Val292Leu
XM_006720991.2:c.874G>C	XP_006721054.1:p.Val292Leu
XM_011522766.1:c.874G>C	XP_011521068.1:p.Val292Leu
XM_011522768.1:c.874G>C	XP_011521070.1:p.Val292Leu
XM_011522769.1:c.874G>C	XP_011521071.1:p.Val292Leu
XM_011522771.1:c.874G>C	XP_011521073.1:p.Val292Leu
XM_011522772.1:c.874G>C	XP_011521074.1:p.Val292Leu
NR_135176.1:n.59+7376C>G
XM_005255725.5:c.874G>C	XP_005255782.1:p.Val292Leu
XM_005255726.4:c.874G>C	XP_005255783.1:p.Val292Leu
XM_006720990.3:c.874G>C	XP_006721053.1:p.Val292Leu
XM_006720991.3:c.874G>C	XP_006721054.1:p.Val292Leu
XM_011522766.3:c.874G>C	XP_011521068.1:p.Val292Leu
XM_011522769.3:c.874G>C	XP_011521071.1:p.Val292Leu
XM_011522771.3:c.874G>C	XP_011521073.1:p.Val292Leu
XM_011522772.3:c.874G>C	XP_011521074.1:p.Val292Leu
XM_017023910.1:c.874G>C	XP_016879399.1:p.Val292Leu
XM_017023911.1:c.-824G>C	XP_016879400.1:n.-824G>C
NM_014714.4:c.874G>C MANE Select	NP_055529.2:p.Val292Leu