Canonical Allele Identifier: CA212453516

Gene: CFAP43

Linked Data

• dbSNP Id: rs1037564769
• gnomAD v4: 10-104162248-A-C
• MyVariant Identifiers: chr10:g.105922006A>C (hg19) ; chr10:g.104162248A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104162248A>C , CM000672.2:g.104162248A>C	GRCh38
NC_000010.10:g.105922006A>C , CM000672.1:g.105922006A>C	GRCh37
NC_000010.9:g.105911996A>C	NCBI36
NG_051581.1:g.75130T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357060.8:c.3333+69T>G MANE Select	ENSP00000349568.3:n.3333+69T>G
ENST00000357060.7:c.3333+69T>G	ENSP00000349568.3:n.3333+69T>G
ENST00000434629.5:c.1415+69T>G
NM_025145.5:c.3333+69T>G	NP_079421.5:n.3333+69T>G
XM_005270171.1:c.3336+69T>G	XP_005270228.1:n.3336+69T>G
XM_005270172.2:c.3336+69T>G	XP_005270229.1:n.3336+69T>G
XM_011540196.1:c.3450+69T>G	XP_011538498.1:n.3450+69T>G
XM_011540197.1:c.3450+69T>G	XP_011538499.1:n.3450+69T>G
XM_011540198.1:c.3333+69T>G	XP_011538500.1:n.3333+69T>G
XM_011540199.1:c.3333+69T>G	XP_011538501.1:n.3333+69T>G
XM_011540200.1:c.3450+69T>G	XP_011538502.1:n.3450+69T>G
XM_011540201.1:c.3450+69T>G	XP_011538503.1:n.3450+69T>G
XM_011540202.1:c.2679+69T>G	XP_011538504.1:n.2679+69T>G
XM_011540203.1:c.1233+69T>G	XP_011538505.1:n.1233+69T>G
NM_025145.6:c.3333+69T>G	NP_079421.5:n.3333+69T>G
XM_005270171.2:c.3336+69T>G	XP_005270228.1:n.3336+69T>G
XM_005270172.3:c.3336+69T>G	XP_005270229.1:n.3336+69T>G
XM_011540196.2:c.3450+69T>G	XP_011538498.1:n.3450+69T>G
XM_011540197.2:c.3450+69T>G	XP_011538499.1:n.3450+69T>G
XM_011540198.2:c.3333+69T>G	XP_011538500.1:n.3333+69T>G
XM_011540199.2:c.3333+69T>G	XP_011538501.1:n.3333+69T>G
XM_011540200.2:c.3450+69T>G	XP_011538502.1:n.3450+69T>G
XM_011540201.2:c.3450+69T>G	XP_011538503.1:n.3450+69T>G
XM_011540202.2:c.2679+69T>G	XP_011538504.1:n.2679+69T>G
XM_017016681.1:c.3447+69T>G	XP_016872170.1:n.3447+69T>G
XM_017016682.1:c.3102+69T>G	XP_016872171.1:n.3102+69T>G
XM_024448177.1:c.1836+69T>G	XP_024303945.1:n.1836+69T>G
XM_024448178.1:c.1233+69T>G	XP_024303946.1:n.1233+69T>G
XR_002957015.1:n.3219+69T>G
NM_025145.7:c.3333+69T>G MANE Select	NP_079421.5:n.3333+69T>G